Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25244141_25244153del | CA2658168345 | DNMT3A | c.170+4_170+16del c.997+4_997+16del (n.997+4_997+16del) c.1182+4_1182+16del (n.1182+4_1182+16del) c.1851+4_1851+16del (n.1851+4_1851+16del) c.1284+4_1284+16del (n.1284+4_1284+16del) n.170+4_170+16del c.1407+4_1407+16del (n.1407+4_1407+16del) c.1704+4_1704+16del (n.1704+4_1704+16del) c.1686+4_1686+16del (n.1686+4_1686+16del) c.1395+4_1395+16del (n.1395+4_1395+16del) c.1323+4_1323+16del (n.1323+4_1323+16del) n.2189+4_2189+16del n.2128+4_2128+16del n.2082+4_2082+16del | gnomAD v4 |
2 | g.25244141_25244155del | CA2576694267 | DNMT3A | c.170+2_170+16del c.997+2_997+16del c.1182+2_1182+16del c.1851+2_1851+16del c.1284+2_1284+16del n.170+2_170+16del c.1407+2_1407+16del c.1704+2_1704+16del c.1686+2_1686+16del c.1395+2_1395+16del c.1323+2_1323+16del n.2189+2_2189+16del n.2128+2_2128+16del n.2082+2_2082+16del | |
2 | g.25244150del | CA2576694271 | DNMT3A | c.170+5del c.997+5del (n.997+5del) c.1182+5del (n.1182+5del) c.1851+5del (n.1851+5del) c.1284+5del (n.1284+5del) n.170+5del c.1407+5del (n.1407+5del) c.1704+5del (n.1704+5del) c.1686+5del (n.1686+5del) c.1395+5del (n.1395+5del) c.1323+5del (n.1323+5del) n.2189+5del n.2128+5del n.2082+5del | |
2 | g.25244150C>A | CA2576694269 | DNMT3A | c.170+5G>T c.997+5G>T (n.997+5G>T) c.1182+5G>T (n.1182+5G>T) c.1851+5G>T (n.1851+5G>T) c.1284+5G>T (n.1284+5G>T) n.170+5G>T c.1407+5G>T (n.1407+5G>T) c.1704+5G>T (n.1704+5G>T) c.1686+5G>T (n.1686+5G>T) c.1395+5G>T (n.1395+5G>T) c.1323+5G>T (n.1323+5G>T) n.2189+5G>T n.2128+5G>T n.2082+5G>T | gnomAD v4 |
2 | g.25244150C= | CA1239262646 | DNMT3A | c.170+5G= c.997+5G= (n.997+5G=) c.1182+5G= (n.1182+5G=) c.1851+5G= (n.1851+5G=) c.1284+5G= (n.1284+5G=) n.170+5G= c.1407+5G= (n.1407+5G=) c.1704+5G= (n.1704+5G=) c.1686+5G= (n.1686+5G=) c.1395+5G= (n.1395+5G=) c.1323+5G= (n.1323+5G=) n.2189+5G= n.2128+5G= n.2082+5G= | |
2 | g.25244150C>G | CA2573130146 | DNMT3A | c.170+5G>C c.997+5G>C (n.997+5G>C) c.1182+5G>C (n.1182+5G>C) c.1851+5G>C (n.1851+5G>C) c.1284+5G>C (n.1284+5G>C) n.170+5G>C c.1407+5G>C (n.1407+5G>C) c.1704+5G>C (n.1704+5G>C) c.1686+5G>C (n.1686+5G>C) c.1395+5G>C (n.1395+5G>C) c.1323+5G>C (n.1323+5G>C) n.2189+5G>C n.2128+5G>C n.2082+5G>C | gnomAD v4 |
2 | g.25244150C>T | CA1555857 | DNMT3A | c.170+5G>A c.997+5G>A (n.997+5G>A) c.1182+5G>A (n.1182+5G>A) c.1851+5G>A (n.1851+5G>A) c.1284+5G>A (n.1284+5G>A) n.170+5G>A c.1407+5G>A (n.1407+5G>A) c.1704+5G>A (n.1704+5G>A) c.1686+5G>A (n.1686+5G>A) c.1395+5G>A (n.1395+5G>A) c.1323+5G>A (n.1323+5G>A) n.2189+5G>A n.2128+5G>A n.2082+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244151del | CA2576694272 | DNMT3A | c.170+4del c.997+4del (n.997+4del) c.1182+4del (n.1182+4del) c.1851+4del (n.1851+4del) c.1284+4del (n.1284+4del) n.170+4del c.1407+4del (n.1407+4del) c.1704+4del (n.1704+4del) c.1686+4del (n.1686+4del) c.1395+4del (n.1395+4del) c.1323+4del (n.1323+4del) n.2189+4del n.2128+4del n.2082+4del | |
2 | g.25244151T>A | CA2658168366 | DNMT3A | c.170+4A>T c.997+4A>T (n.997+4A>T) c.1182+4A>T (n.1182+4A>T) c.1851+4A>T (n.1851+4A>T) c.1284+4A>T (n.1284+4A>T) n.170+4A>T c.1407+4A>T (n.1407+4A>T) c.1704+4A>T (n.1704+4A>T) c.1686+4A>T (n.1686+4A>T) c.1395+4A>T (n.1395+4A>T) c.1323+4A>T (n.1323+4A>T) n.2189+4A>T n.2128+4A>T n.2082+4A>T | gnomAD v4 |
2 | g.25244151T>G | CA1028509677 | DNMT3A | c.170+4A>C c.997+4A>C (n.997+4A>C) c.1182+4A>C (n.1182+4A>C) c.1851+4A>C (n.1851+4A>C) c.1284+4A>C (n.1284+4A>C) n.170+4A>C c.1407+4A>C (n.1407+4A>C) c.1704+4A>C (n.1704+4A>C) c.1686+4A>C (n.1686+4A>C) c.1395+4A>C (n.1395+4A>C) c.1323+4A>C (n.1323+4A>C) n.2189+4A>C n.2128+4A>C n.2082+4A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244151T= | CA1239262650 | DNMT3A | c.170+4A= c.997+4A= (n.997+4A=) c.1182+4A= (n.1182+4A=) c.1851+4A= (n.1851+4A=) c.1284+4A= (n.1284+4A=) n.170+4A= c.1407+4A= (n.1407+4A=) c.1704+4A= (n.1704+4A=) c.1686+4A= (n.1686+4A=) c.1395+4A= (n.1395+4A=) c.1323+4A= (n.1323+4A=) n.2189+4A= n.2128+4A= n.2082+4A= | |
2 | g.25244151_25244153delinsTCA | CA1239262649 | DNMT3A | c.170+2_170+4delinsTGA c.997+2_997+4delinsTGA (n.997+2_997+4delinsTGA) c.1182+2_1182+4delinsTGA (n.1182+2_1182+4delinsTGA) c.1851+2_1851+4delinsTGA (n.1851+2_1851+4delinsTGA) c.1284+2_1284+4delinsTGA (n.1284+2_1284+4delinsTGA) n.170+2_170+4delinsTGA c.1407+2_1407+4delinsTGA (n.1407+2_1407+4delinsTGA) c.1704+2_1704+4delinsTGA (n.1704+2_1704+4delinsTGA) c.1686+2_1686+4delinsTGA (n.1686+2_1686+4delinsTGA) c.1395+2_1395+4delinsTGA (n.1395+2_1395+4delinsTGA) c.1323+2_1323+4delinsTGA (n.1323+2_1323+4delinsTGA) n.2189+2_2189+4delinsTGA n.2128+2_2128+4delinsTGA n.2082+2_2082+4delinsTGA | |
2 | g.25244152C>G | CA2499215818 | DNMT3A | c.170+3G>C c.997+3G>C (n.997+3G>C) c.1182+3G>C (n.1182+3G>C) c.1851+3G>C (n.1851+3G>C) c.1284+3G>C (n.1284+3G>C) n.170+3G>C c.1407+3G>C (n.1407+3G>C) c.1704+3G>C (n.1704+3G>C) c.1686+3G>C (n.1686+3G>C) c.1395+3G>C (n.1395+3G>C) c.1323+3G>C (n.1323+3G>C) n.2189+3G>C n.2128+3G>C n.2082+3G>C | ClinVar dbSNP |
2 | g.25244152_25244154del | CA2658168370 | DNMT3A | c.170+1_170+3del c.997+1_997+3del (n.997+1_997+3del) c.1182+1_1182+3del (n.1182+1_1182+3del) c.1851+1_1851+3del (n.1851+1_1851+3del) c.1284+1_1284+3del (n.1284+1_1284+3del) n.170+1_170+3del c.1407+1_1407+3del (n.1407+1_1407+3del) c.1704+1_1704+3del (n.1704+1_1704+3del) c.1686+1_1686+3del (n.1686+1_1686+3del) c.1395+1_1395+3del (n.1395+1_1395+3del) c.1323+1_1323+3del (n.1323+1_1323+3del) n.2189+1_2189+3del n.2128+1_2128+3del n.2082+1_2082+3del | gnomAD v4 |
2 | g.25244154_25244155del | CA531760989 | DNMT3A | c.170+2_170+3del c.997+2_997+3del c.1182+2_1182+3del c.1851+2_1851+3del c.1284+2_1284+3del n.170+2_170+3del c.1407+2_1407+3del c.1704+2_1704+3del c.1686+2_1686+3del c.1395+2_1395+3del c.1323+2_1323+3del n.2189+2_2189+3del n.2128+2_2128+3del n.2082+2_2082+3del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244153A= | CA1239262657 | DNMT3A | c.170+2T= c.997+2T= (n.997+2T=) c.1182+2T= (n.1182+2T=) c.1851+2T= (n.1851+2T=) c.1284+2T= (n.1284+2T=) n.170+2T= c.1407+2T= (n.1407+2T=) c.1704+2T= (n.1704+2T=) c.1686+2T= (n.1686+2T=) c.1395+2T= (n.1395+2T=) c.1323+2T= (n.1323+2T=) n.2189+2T= n.2128+2T= n.2082+2T= | |
2 | g.25244153A>C | CA346071638 | DNMT3A | c.170+2T>G c.997+2T>G (n.997+2T>G) c.1182+2T>G (n.1182+2T>G) c.1851+2T>G (n.1851+2T>G) c.1284+2T>G (n.1284+2T>G) n.170+2T>G c.1407+2T>G (n.1407+2T>G) c.1704+2T>G (n.1704+2T>G) c.1686+2T>G (n.1686+2T>G) c.1395+2T>G (n.1395+2T>G) c.1323+2T>G (n.1323+2T>G) n.2189+2T>G n.2128+2T>G n.2082+2T>G | dbSNP gnomAD v4 |
2 | g.25244153A>G | CA1555858 | DNMT3A | c.170+2T>C c.997+2T>C (n.997+2T>C) c.1182+2T>C (n.1182+2T>C) c.1851+2T>C (n.1851+2T>C) c.1284+2T>C (n.1284+2T>C) n.170+2T>C c.1407+2T>C (n.1407+2T>C) c.1704+2T>C (n.1704+2T>C) c.1686+2T>C (n.1686+2T>C) c.1395+2T>C (n.1395+2T>C) c.1323+2T>C (n.1323+2T>C) n.2189+2T>C n.2128+2T>C n.2082+2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244153A>T | CA346071639 | DNMT3A | c.170+2T>A c.997+2T>A (n.997+2T>A) c.1182+2T>A (n.1182+2T>A) c.1851+2T>A (n.1851+2T>A) c.1284+2T>A (n.1284+2T>A) n.170+2T>A c.1407+2T>A (n.1407+2T>A) c.1704+2T>A (n.1704+2T>A) c.1686+2T>A (n.1686+2T>A) c.1395+2T>A (n.1395+2T>A) c.1323+2T>A (n.1323+2T>A) n.2189+2T>A n.2128+2T>A n.2082+2T>A | dbSNP |
2 | g.25244154del | CA2576694273 | DNMT3A | c.170+1del c.997+1del (n.997+1del) c.1182+1del (n.1182+1del) c.1851+1del (n.1851+1del) c.1284+1del (n.1284+1del) n.170+1del c.1407+1del (n.1407+1del) c.1704+1del (n.1704+1del) c.1686+1del (n.1686+1del) c.1395+1del (n.1395+1del) c.1323+1del (n.1323+1del) n.2189+1del n.2128+1del n.2082+1del | |
2 | g.25244154C>A | CA346071640 | DNMT3A | c.170+1G>T c.997+1G>T (n.997+1G>T) c.1182+1G>T (n.1182+1G>T) c.1851+1G>T (n.1851+1G>T) c.1284+1G>T (n.1284+1G>T) n.170+1G>T c.1407+1G>T (n.1407+1G>T) c.1704+1G>T (n.1704+1G>T) c.1686+1G>T (n.1686+1G>T) c.1395+1G>T (n.1395+1G>T) c.1323+1G>T (n.1323+1G>T) n.2189+1G>T n.2128+1G>T n.2082+1G>T | dbSNP gnomAD v4 |
2 | g.25244154C= | CA1239262664 | DNMT3A | c.170+1G= c.997+1G= (n.997+1G=) c.1182+1G= (n.1182+1G=) c.1851+1G= (n.1851+1G=) c.1284+1G= (n.1284+1G=) n.170+1G= c.1407+1G= (n.1407+1G=) c.1704+1G= (n.1704+1G=) c.1686+1G= (n.1686+1G=) c.1395+1G= (n.1395+1G=) c.1323+1G= (n.1323+1G=) n.2189+1G= n.2128+1G= n.2082+1G= | |
2 | g.25244154C>G | CA346071641 | DNMT3A | c.170+1G>C c.997+1G>C (n.997+1G>C) c.1182+1G>C (n.1182+1G>C) c.1851+1G>C (n.1851+1G>C) c.1284+1G>C (n.1284+1G>C) n.170+1G>C c.1407+1G>C (n.1407+1G>C) c.1704+1G>C (n.1704+1G>C) c.1686+1G>C (n.1686+1G>C) c.1395+1G>C (n.1395+1G>C) c.1323+1G>C (n.1323+1G>C) n.2189+1G>C n.2128+1G>C n.2082+1G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244154C>T | CA43703227 | DNMT3A | c.170+1G>A c.997+1G>A (n.997+1G>A) c.1182+1G>A (n.1182+1G>A) c.1851+1G>A (n.1851+1G>A) c.1284+1G>A (n.1284+1G>A) n.170+1G>A c.1407+1G>A (n.1407+1G>A) c.1704+1G>A (n.1704+1G>A) c.1686+1G>A (n.1686+1G>A) c.1395+1G>A (n.1395+1G>A) c.1323+1G>A (n.1323+1G>A) n.2189+1G>A n.2128+1G>A n.2082+1G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244154_25244167dup | CA2658168379 | DNMT3A | c.158_170+1dup c.985_997+1dup c.1170_1182+1dup c.1839_1851+1dup c.1272_1284+1dup n.158_170+1dup c.1395_1407+1dup c.1692_1704+1dup c.1674_1686+1dup c.1383_1395+1dup c.1311_1323+1dup n.2177_2189+1dup n.2116_2128+1dup n.2070_2082+1dup | gnomAD v4 |
2 | g.25244155A>C | CA346071642 | DNMT3A | c.170T>G c.997T>G (n.997T>G) c.1182T>G (p.Phe394Leu) c.1851T>G (p.Phe617Leu) c.1284T>G (p.Phe428Leu) n.170T>G c.1407T>G (p.Phe469Leu) c.1704T>G (p.Phe568Leu) c.1686T>G (p.Phe562Leu) c.1395T>G (p.Phe465Leu) c.1323T>G (p.Phe441Leu) n.2189T>G n.2128T>G n.2082T>G | |
2 | g.25244155A>G | CA425182211 | DNMT3A | c.170T>C c.997T>C (n.997T>C) c.1182T>C (p.Phe394=) c.1851T>C (p.Phe617=) c.1284T>C (p.Phe428=) n.170T>C c.1407T>C (p.Phe469=) c.1704T>C (p.Phe568=) c.1686T>C (p.Phe562=) c.1395T>C (p.Phe465=) c.1323T>C (p.Phe441=) n.2189T>C n.2128T>C n.2082T>C | |
2 | g.25244155A>T | CA346071643 | DNMT3A | c.170T>A c.997T>A (n.997T>A) c.1182T>A (p.Phe394Leu) c.1851T>A (p.Phe617Leu) c.1284T>A (p.Phe428Leu) n.170T>A c.1407T>A (p.Phe469Leu) c.1704T>A (p.Phe568Leu) c.1686T>A (p.Phe562Leu) c.1395T>A (p.Phe465Leu) c.1323T>A (p.Phe441Leu) n.2189T>A n.2128T>A n.2082T>A | |
2 | g.25244157dup | CA2658168381 | DNMT3A | c.170dup c.997dup (n.997dup) c.1182dup (p.Asp395Ter) c.1851dup (p.Asp618Ter) c.1284dup (p.Asp429Ter) n.170dup c.1407dup (p.Asp470Ter) c.1704dup (p.Asp569Ter) c.1686dup (p.Asp563Ter) c.1395dup (p.Asp466Ter) c.1323dup (p.Asp442Ter) n.2189dup n.2128dup n.2082dup | gnomAD v4 |
2 | g.25244157del | CA2658168382 | DNMT3A | c.170del c.997del (n.997del) c.1182del (p.Phe394LeufsTer?) c.1851del (p.Phe617LeufsTer?) c.1284del (p.Phe428LeufsTer?) n.170del c.1407del (p.Phe469LeufsTer?) c.1704del (p.Phe568LeufsTer?) c.1686del (p.Phe562LeufsTer?) c.1395del (p.Phe465LeufsTer?) c.1323del (p.Phe441LeufsTer?) n.2189del n.2128del n.2082del | gnomAD v4 |
2 | g.25244156A>C | CA346071644 | DNMT3A | c.169T>G c.996T>G (n.996T>G) c.1181T>G (p.Phe394Cys) c.1850T>G (p.Phe617Cys) c.1283T>G (p.Phe428Cys) n.169T>G c.1406T>G (p.Phe469Cys) c.1703T>G (p.Phe568Cys) c.1685T>G (p.Phe562Cys) c.1394T>G (p.Phe465Cys) c.1322T>G (p.Phe441Cys) n.2188T>G n.2127T>G n.2081T>G | |
2 | g.25244156A>G | CA346071645 | DNMT3A | c.169T>C c.996T>C (n.996T>C) c.1181T>C (p.Phe394Ser) c.1850T>C (p.Phe617Ser) c.1283T>C (p.Phe428Ser) n.169T>C c.1406T>C (p.Phe469Ser) c.1703T>C (p.Phe568Ser) c.1685T>C (p.Phe562Ser) c.1394T>C (p.Phe465Ser) c.1322T>C (p.Phe441Ser) n.2188T>C n.2127T>C n.2081T>C | |
2 | g.25244156A>T | CA346071646 | DNMT3A | c.169T>A c.996T>A (n.996T>A) c.1181T>A (p.Phe394Tyr) c.1850T>A (p.Phe617Tyr) c.1283T>A (p.Phe428Tyr) n.169T>A c.1406T>A (p.Phe469Tyr) c.1703T>A (p.Phe568Tyr) c.1685T>A (p.Phe562Tyr) c.1394T>A (p.Phe465Tyr) c.1322T>A (p.Phe441Tyr) n.2188T>A n.2127T>A n.2081T>A | |
2 | g.25244157A= | CA1239262667 | DNMT3A | c.168T= c.995T= (n.995T=) c.1180T= (p.Phe394=) c.1849T= (p.Phe617=) c.1282T= (p.Phe428=) n.168T= c.1405T= (p.Phe469=) c.1702T= (p.Phe568=) c.1684T= (p.Phe562=) c.1393T= (p.Phe465=) c.1321T= (p.Phe441=) n.2187T= n.2126T= n.2080T= | |
2 | g.25244157A>C | CA346071647 | DNMT3A | c.168T>G c.995T>G (n.995T>G) c.1180T>G (p.Phe394Val) c.1849T>G (p.Phe617Val) c.1282T>G (p.Phe428Val) n.168T>G c.1405T>G (p.Phe469Val) c.1702T>G (p.Phe568Val) c.1684T>G (p.Phe562Val) c.1393T>G (p.Phe465Val) c.1321T>G (p.Phe441Val) n.2187T>G n.2126T>G n.2080T>G | |
2 | g.25244157A>G | CA346071649 | DNMT3A | c.168T>C c.995T>C (n.995T>C) c.1180T>C (p.Phe394Leu) c.1849T>C (p.Phe617Leu) c.1282T>C (p.Phe428Leu) n.168T>C c.1405T>C (p.Phe469Leu) c.1702T>C (p.Phe568Leu) c.1684T>C (p.Phe562Leu) c.1393T>C (p.Phe465Leu) c.1321T>C (p.Phe441Leu) n.2187T>C n.2126T>C n.2080T>C | |
2 | g.25244157A>T | CA346071648 | DNMT3A | c.168T>A c.995T>A (n.995T>A) c.1180T>A (p.Phe394Ile) c.1849T>A (p.Phe617Ile) c.1282T>A (p.Phe428Ile) n.168T>A c.1405T>A (p.Phe469Ile) c.1702T>A (p.Phe568Ile) c.1684T>A (p.Phe562Ile) c.1393T>A (p.Phe465Ile) c.1321T>A (p.Phe441Ile) n.2187T>A n.2126T>A n.2080T>A | dbSNP |
2 | g.25244158T>A | CA346071650 | DNMT3A | c.167A>T c.994A>T (n.994A>T) c.1179A>T (p.Glu393Asp) c.1848A>T (p.Glu616Asp) c.1281A>T (p.Glu427Asp) n.167A>T c.1404A>T (p.Glu468Asp) c.1701A>T (p.Glu567Asp) c.1683A>T (p.Glu561Asp) c.1392A>T (p.Glu464Asp) c.1320A>T (p.Glu440Asp) n.2186A>T n.2125A>T n.2079A>T | |
2 | g.25244158T>C | CA425182213 | DNMT3A | c.167A>G c.994A>G (n.994A>G) c.1179A>G (p.Glu393=) c.1848A>G (p.Glu616=) c.1281A>G (p.Glu427=) n.167A>G c.1404A>G (p.Glu468=) c.1701A>G (p.Glu567=) c.1683A>G (p.Glu561=) c.1392A>G (p.Glu464=) c.1320A>G (p.Glu440=) n.2186A>G n.2125A>G n.2079A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244158T>G | CA346071651 | DNMT3A | c.167A>C c.994A>C (n.994A>C) c.1179A>C (p.Glu393Asp) c.1848A>C (p.Glu616Asp) c.1281A>C (p.Glu427Asp) n.167A>C c.1404A>C (p.Glu468Asp) c.1701A>C (p.Glu567Asp) c.1683A>C (p.Glu561Asp) c.1392A>C (p.Glu464Asp) c.1320A>C (p.Glu440Asp) n.2186A>C n.2125A>C n.2079A>C | |
2 | g.25244158T= | CA1239262671 | DNMT3A | c.167A= c.994A= (n.994A=) c.1179A= (p.Glu393=) c.1848A= (p.Glu616=) c.1281A= (p.Glu427=) n.167A= c.1404A= (p.Glu468=) c.1701A= (p.Glu567=) c.1683A= (p.Glu561=) c.1392A= (p.Glu464=) c.1320A= (p.Glu440=) n.2186A= n.2125A= n.2079A= | |
2 | g.25244159dup | CA1239262670 | DNMT3A | c.167dup c.994dup (n.994dup) c.1179dup (p.Phe394IlefsTer2) c.1848dup (p.Phe617IlefsTer2) c.1281dup (p.Phe428IlefsTer2) n.167dup c.1404dup (p.Phe469IlefsTer2) c.1701dup (p.Phe568IlefsTer2) c.1683dup (p.Phe562IlefsTer2) c.1392dup (p.Phe465IlefsTer2) c.1320dup (p.Phe441IlefsTer2) n.2186dup n.2125dup n.2079dup | dbSNP |
2 | g.25244159del | CA2658168385 | DNMT3A | c.167del c.994del (n.994del) c.1179del (p.Glu393AspfsTer?) c.1848del (p.Glu616AspfsTer?) c.1281del (p.Glu427AspfsTer?) n.167del c.1404del (p.Glu468AspfsTer?) c.1701del (p.Glu567AspfsTer?) c.1683del (p.Glu561AspfsTer?) c.1392del (p.Glu464AspfsTer?) c.1320del (p.Glu440AspfsTer?) n.2186del n.2125del n.2079del | gnomAD v4 |
2 | g.25244158_25244159insG | CA2658168387 | DNMT3A | c.166_167insC c.993_994insC (n.993_994insC) c.1178_1179insC (p.Glu393AspfsTer3) c.1847_1848insC (p.Glu616AspfsTer3) c.1280_1281insC (p.Glu427AspfsTer3) n.166_167insC c.1403_1404insC (p.Glu468AspfsTer3) c.1700_1701insC (p.Glu567AspfsTer3) c.1682_1683insC (p.Glu561AspfsTer3) c.1391_1392insC (p.Glu464AspfsTer3) c.1319_1320insC (p.Glu440AspfsTer3) n.2185_2186insC n.2124_2125insC n.2078_2079insC | gnomAD v4 |
2 | g.25244159T>A | CA346071652 | DNMT3A | c.166A>T c.993A>T (n.993A>T) c.1178A>T (p.Glu393Val) c.1847A>T (p.Glu616Val) c.1280A>T (p.Glu427Val) n.166A>T c.1403A>T (p.Glu468Val) c.1700A>T (p.Glu567Val) c.1682A>T (p.Glu561Val) c.1391A>T (p.Glu464Val) c.1319A>T (p.Glu440Val) n.2185A>T n.2124A>T n.2078A>T | |
2 | g.25244159T>C | CA346071653 | DNMT3A | c.166A>G c.993A>G (n.993A>G) c.1178A>G (p.Glu393Gly) c.1847A>G (p.Glu616Gly) c.1280A>G (p.Glu427Gly) n.166A>G c.1403A>G (p.Glu468Gly) c.1700A>G (p.Glu567Gly) c.1682A>G (p.Glu561Gly) c.1391A>G (p.Glu464Gly) c.1319A>G (p.Glu440Gly) n.2185A>G n.2124A>G n.2078A>G | |
2 | g.25244159T>G | CA346071654 | DNMT3A | c.166A>C c.993A>C (n.993A>C) c.1178A>C (p.Glu393Ala) c.1847A>C (p.Glu616Ala) c.1280A>C (p.Glu427Ala) n.166A>C c.1403A>C (p.Glu468Ala) c.1700A>C (p.Glu567Ala) c.1682A>C (p.Glu561Ala) c.1391A>C (p.Glu464Ala) c.1319A>C (p.Glu440Ala) n.2185A>C n.2124A>C n.2078A>C | |
2 | g.25244159_25244160delinsTC | CA1239262676 | DNMT3A | c.165_166delinsGA c.992_993delinsGA (n.992_993delinsGA) c.1177_1178delinsGA (p.Glu393=) c.1846_1847delinsGA (p.Glu616=) c.1279_1280delinsGA (p.Glu427=) n.165_166delinsGA c.1402_1403delinsGA (p.Glu468=) c.1699_1700delinsGA (p.Glu567=) c.1681_1682delinsGA (p.Glu561=) c.1390_1391delinsGA (p.Glu464=) c.1318_1319delinsGA (p.Glu440=) n.2184_2185delinsGA n.2123_2124delinsGA n.2077_2078delinsGA | |
2 | g.25244159_25244161delinsTCC | CA1239262677 | DNMT3A | c.164_166delinsGGA c.991_993delinsGGA (n.991_993delinsGGA) c.1176_1178delinsGGA (p.Gln392=) c.1845_1847delinsGGA (p.Gln615=) c.1278_1280delinsGGA (p.Gln426=) n.164_166delinsGGA c.1401_1403delinsGGA (p.Gln467=) c.1698_1700delinsGGA (p.Gln566=) c.1680_1682delinsGGA (p.Gln560=) c.1389_1391delinsGGA (p.Gln463=) c.1317_1319delinsGGA (p.Gln439=) n.2183_2185delinsGGA n.2122_2124delinsGGA n.2076_2078delinsGGA | |
2 | g.25244160C>A | CA1555859 | DNMT3A | c.165G>T c.992G>T (n.992G>T) c.1177G>T (p.Glu393Ter) c.1846G>T (p.Glu616Ter) c.1279G>T (p.Glu427Ter) n.165G>T c.1402G>T (p.Glu468Ter) c.1699G>T (p.Glu567Ter) c.1681G>T (p.Glu561Ter) c.1390G>T (p.Glu464Ter) c.1318G>T (p.Glu440Ter) n.2184G>T n.2123G>T n.2077G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244160C= | CA1239262685 | DNMT3A | c.165G= c.992G= (n.992G=) c.1177G= (p.Glu393=) c.1846G= (p.Glu616=) c.1279G= (p.Glu427=) n.165G= c.1402G= (p.Glu468=) c.1699G= (p.Glu567=) c.1681G= (p.Glu561=) c.1390G= (p.Glu464=) c.1318G= (p.Glu440=) n.2184G= n.2123G= n.2077G= | |
2 | g.25244160C>G | CA346071655 | DNMT3A | c.165G>C c.992G>C (n.992G>C) c.1177G>C (p.Glu393Gln) c.1846G>C (p.Glu616Gln) c.1279G>C (p.Glu427Gln) n.165G>C c.1402G>C (p.Glu468Gln) c.1699G>C (p.Glu567Gln) c.1681G>C (p.Glu561Gln) c.1390G>C (p.Glu464Gln) c.1318G>C (p.Glu440Gln) n.2184G>C n.2123G>C n.2077G>C | gnomAD v4 |
2 | g.25244160C>T | CA43703230 | DNMT3A | c.165G>A c.992G>A (n.992G>A) c.1177G>A (p.Glu393Lys) c.1846G>A (p.Glu616Lys) c.1279G>A (p.Glu427Lys) n.165G>A c.1402G>A (p.Glu468Lys) c.1699G>A (p.Glu567Lys) c.1681G>A (p.Glu561Lys) c.1390G>A (p.Glu464Lys) c.1318G>A (p.Glu440Lys) n.2184G>A n.2123G>A n.2077G>A | dbSNP |
2 | g.25244160_25244161del | CA1239262683 | DNMT3A | c.164_165del c.991_992del (n.991_992del) c.1176_1177del (p.Glu393IlefsTer2) c.1845_1846del (p.Glu616IlefsTer2) c.1278_1279del (p.Glu427IlefsTer2) n.164_165del c.1401_1402del (p.Glu468IlefsTer2) c.1698_1699del (p.Glu567IlefsTer2) c.1680_1681del (p.Glu561IlefsTer2) c.1389_1390del (p.Glu464IlefsTer2) c.1317_1318del (p.Glu440IlefsTer2) n.2183_2184del n.2122_2123del n.2076_2077del | dbSNP |
2 | g.25244161del | CA425182215 | DNMT3A | c.165del c.992del (n.992del) c.1177del (p.Glu393AsnfsTer?) c.1846del (p.Glu616AsnfsTer?) c.1279del (p.Glu427AsnfsTer?) n.165del c.1402del (p.Glu468AsnfsTer?) c.1699del (p.Glu567AsnfsTer?) c.1681del (p.Glu561AsnfsTer?) c.1390del (p.Glu464AsnfsTer?) c.1318del (p.Glu440AsnfsTer?) n.2184del n.2123del n.2077del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.25244161C>A | CA346071656 | DNMT3A | c.164G>T c.991G>T (n.991G>T) c.1176G>T (p.Gln392His) c.1845G>T (p.Gln615His) c.1278G>T (p.Gln426His) n.164G>T c.1401G>T (p.Gln467His) c.1698G>T (p.Gln566His) c.1680G>T (p.Gln560His) c.1389G>T (p.Gln463His) c.1317G>T (p.Gln439His) n.2183G>T n.2122G>T n.2076G>T | |
2 | g.25244161C= | CA1239262690 | DNMT3A | c.164G= c.991G= (n.991G=) c.1176G= (p.Gln392=) c.1845G= (p.Gln615=) c.1278G= (p.Gln426=) n.164G= c.1401G= (p.Gln467=) c.1698G= (p.Gln566=) c.1680G= (p.Gln560=) c.1389G= (p.Gln463=) c.1317G= (p.Gln439=) n.2183G= n.2122G= n.2076G= | |
2 | g.25244161C>G | CA346071657 | DNMT3A | c.164G>C c.991G>C (n.991G>C) c.1176G>C (p.Gln392His) c.1845G>C (p.Gln615His) c.1278G>C (p.Gln426His) n.164G>C c.1401G>C (p.Gln467His) c.1698G>C (p.Gln566His) c.1680G>C (p.Gln560His) c.1389G>C (p.Gln463His) c.1317G>C (p.Gln439His) n.2183G>C n.2122G>C n.2076G>C | dbSNP |
2 | g.25244161C>T | CA1555860 | DNMT3A | c.164G>A c.991G>A (n.991G>A) c.1176G>A (p.Gln392=) c.1845G>A (p.Gln615=) c.1278G>A (p.Gln426=) n.164G>A c.1401G>A (p.Gln467=) c.1698G>A (p.Gln566=) c.1680G>A (p.Gln560=) c.1389G>A (p.Gln463=) c.1317G>A (p.Gln439=) n.2183G>A n.2122G>A n.2076G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244162del | CA2658168396 | DNMT3A | c.163del c.990del (n.990del) c.1175del (p.Gln392ArgfsTer?) c.1844del (p.Gln615ArgfsTer?) c.1277del (p.Gln426ArgfsTer?) n.163del c.1400del (p.Gln467ArgfsTer?) c.1697del (p.Gln566ArgfsTer?) c.1679del (p.Gln560ArgfsTer?) c.1388del (p.Gln463ArgfsTer?) c.1316del (p.Gln439ArgfsTer?) n.2182del n.2121del n.2075del | gnomAD v4 |
2 | g.25244162T>A | CA346071658 | DNMT3A | c.163A>T c.990A>T (n.990A>T) c.1175A>T (p.Gln392Leu) c.1844A>T (p.Gln615Leu) c.1277A>T (p.Gln426Leu) n.163A>T c.1400A>T (p.Gln467Leu) c.1697A>T (p.Gln566Leu) c.1679A>T (p.Gln560Leu) c.1388A>T (p.Gln463Leu) c.1316A>T (p.Gln439Leu) n.2182A>T n.2121A>T n.2075A>T | |
2 | g.25244162T>C | CA346071659 | DNMT3A | c.163A>G c.990A>G (n.990A>G) c.1175A>G (p.Gln392Arg) c.1844A>G (p.Gln615Arg) c.1277A>G (p.Gln426Arg) n.163A>G c.1400A>G (p.Gln467Arg) c.1697A>G (p.Gln566Arg) c.1679A>G (p.Gln560Arg) c.1388A>G (p.Gln463Arg) c.1316A>G (p.Gln439Arg) n.2182A>G n.2121A>G n.2075A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244162T>G | CA346071660 | DNMT3A | c.163A>C c.990A>C (n.990A>C) c.1175A>C (p.Gln392Pro) c.1844A>C (p.Gln615Pro) c.1277A>C (p.Gln426Pro) n.163A>C c.1400A>C (p.Gln467Pro) c.1697A>C (p.Gln566Pro) c.1679A>C (p.Gln560Pro) c.1388A>C (p.Gln463Pro) c.1316A>C (p.Gln439Pro) n.2182A>C n.2121A>C n.2075A>C | |
2 | g.25244162T= | CA1239262693 | DNMT3A | c.163A= c.990A= (n.990A=) c.1175A= (p.Gln392=) c.1844A= (p.Gln615=) c.1277A= (p.Gln426=) n.163A= c.1400A= (p.Gln467=) c.1697A= (p.Gln566=) c.1679A= (p.Gln560=) c.1388A= (p.Gln463=) c.1316A= (p.Gln439=) n.2182A= n.2121A= n.2075A= | |
2 | g.25244163G>A | CA1555861 | DNMT3A | c.162C>T c.989C>T (n.989C>T) c.1174C>T (p.Gln392Ter) c.1843C>T (p.Gln615Ter) c.1276C>T (p.Gln426Ter) n.162C>T c.1399C>T (p.Gln467Ter) c.1696C>T (p.Gln566Ter) c.1678C>T (p.Gln560Ter) c.1387C>T (p.Gln463Ter) c.1315C>T (p.Gln439Ter) n.2181C>T n.2120C>T n.2074C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244163G>C | CA346071662 | DNMT3A | c.162C>G c.989C>G (n.989C>G) c.1174C>G (p.Gln392Glu) c.1843C>G (p.Gln615Glu) c.1276C>G (p.Gln426Glu) n.162C>G c.1399C>G (p.Gln467Glu) c.1696C>G (p.Gln566Glu) c.1678C>G (p.Gln560Glu) c.1387C>G (p.Gln463Glu) c.1315C>G (p.Gln439Glu) n.2181C>G n.2120C>G n.2074C>G | |
2 | g.25244163G= | CA1239262699 | DNMT3A | c.162C= c.989C= (n.989C=) c.1174C= (p.Gln392=) c.1843C= (p.Gln615=) c.1276C= (p.Gln426=) n.162C= c.1399C= (p.Gln467=) c.1696C= (p.Gln566=) c.1678C= (p.Gln560=) c.1387C= (p.Gln463=) c.1315C= (p.Gln439=) n.2181C= n.2120C= n.2074C= | |
2 | g.25244163G>T | CA346071661 | DNMT3A | c.162C>A c.989C>A (n.989C>A) c.1174C>A (p.Gln392Lys) c.1843C>A (p.Gln615Lys) c.1276C>A (p.Gln426Lys) n.162C>A c.1399C>A (p.Gln467Lys) c.1696C>A (p.Gln566Lys) c.1678C>A (p.Gln560Lys) c.1387C>A (p.Gln463Lys) c.1315C>A (p.Gln439Lys) n.2181C>A n.2120C>A n.2074C>A | |
2 | g.25244164del | CA2658168397 | DNMT3A | c.162del c.989del (n.989del) c.1174del (p.Gln392ArgfsTer?) c.1843del (p.Gln615ArgfsTer?) c.1276del (p.Gln426ArgfsTer?) n.162del c.1399del (p.Gln467ArgfsTer?) c.1696del (p.Gln566ArgfsTer?) c.1678del (p.Gln560ArgfsTer?) c.1387del (p.Gln463ArgfsTer?) c.1315del (p.Gln439ArgfsTer?) n.2181del n.2120del n.2074del | gnomAD v4 |
2 | g.25244164G>A | CA425182217 | DNMT3A | c.161C>T c.988C>T (n.988C>T) c.1173C>T (p.Asp391=) c.1842C>T (p.Asp614=) c.1275C>T (p.Asp425=) n.161C>T c.1398C>T (p.Asp466=) c.1695C>T (p.Asp565=) c.1677C>T (p.Asp559=) c.1386C>T (p.Asp462=) c.1314C>T (p.Asp438=) n.2180C>T n.2119C>T n.2073C>T | |
2 | g.25244164G>C | CA346071663 | DNMT3A | c.161C>G c.988C>G (n.988C>G) c.1173C>G (p.Asp391Glu) c.1842C>G (p.Asp614Glu) c.1275C>G (p.Asp425Glu) n.161C>G c.1398C>G (p.Asp466Glu) c.1695C>G (p.Asp565Glu) c.1677C>G (p.Asp559Glu) c.1386C>G (p.Asp462Glu) c.1314C>G (p.Asp438Glu) n.2180C>G n.2119C>G n.2073C>G | dbSNP |
2 | g.25244164G>T | CA346071664 | DNMT3A | c.161C>A c.988C>A (n.988C>A) c.1173C>A (p.Asp391Glu) c.1842C>A (p.Asp614Glu) c.1275C>A (p.Asp425Glu) n.161C>A c.1398C>A (p.Asp466Glu) c.1695C>A (p.Asp565Glu) c.1677C>A (p.Asp559Glu) c.1386C>A (p.Asp462Glu) c.1314C>A (p.Asp438Glu) n.2180C>A n.2119C>A n.2073C>A | |
2 | g.25244165T>A | CA346071665 | DNMT3A | c.160A>T c.987A>T (n.987A>T) c.1172A>T (p.Asp391Val) c.1841A>T (p.Asp614Val) c.1274A>T (p.Asp425Val) n.160A>T c.1397A>T (p.Asp466Val) c.1694A>T (p.Asp565Val) c.1676A>T (p.Asp559Val) c.1385A>T (p.Asp462Val) c.1313A>T (p.Asp438Val) n.2179A>T n.2118A>T n.2072A>T | dbSNP |
2 | g.25244165T>C | CA346071666 | DNMT3A | c.160A>G c.987A>G (n.987A>G) c.1172A>G (p.Asp391Gly) c.1841A>G (p.Asp614Gly) c.1274A>G (p.Asp425Gly) n.160A>G c.1397A>G (p.Asp466Gly) c.1694A>G (p.Asp565Gly) c.1676A>G (p.Asp559Gly) c.1385A>G (p.Asp462Gly) c.1313A>G (p.Asp438Gly) n.2179A>G n.2118A>G n.2072A>G | |
2 | g.25244165T>G | CA346071667 | DNMT3A | c.160A>C c.987A>C (n.987A>C) c.1172A>C (p.Asp391Ala) c.1841A>C (p.Asp614Ala) c.1274A>C (p.Asp425Ala) n.160A>C c.1397A>C (p.Asp466Ala) c.1694A>C (p.Asp565Ala) c.1676A>C (p.Asp559Ala) c.1385A>C (p.Asp462Ala) c.1313A>C (p.Asp438Ala) n.2179A>C n.2118A>C n.2072A>C | |
2 | g.25244165_25244166delinsTC | CA1239262702 | DNMT3A | c.159_160delinsGA c.986_987delinsGA (n.986_987delinsGA) c.1171_1172delinsGA (p.Asp391=) c.1840_1841delinsGA (p.Asp614=) c.1273_1274delinsGA (p.Asp425=) n.159_160delinsGA c.1396_1397delinsGA (p.Asp466=) c.1693_1694delinsGA (p.Asp565=) c.1675_1676delinsGA (p.Asp559=) c.1384_1385delinsGA (p.Asp462=) c.1312_1313delinsGA (p.Asp438=) n.2178_2179delinsGA n.2117_2118delinsGA n.2071_2072delinsGA | |
2 | g.25244166del | CA1555862 | DNMT3A | c.159del c.986del (n.986del) c.1171del (p.Asp391ThrfsTer?) c.1840del (p.Asp614ThrfsTer?) c.1273del (p.Asp425ThrfsTer?) n.159del c.1396del (p.Asp466ThrfsTer?) c.1693del (p.Asp565ThrfsTer?) c.1675del (p.Asp559ThrfsTer?) c.1384del (p.Asp462ThrfsTer?) c.1312del (p.Asp438ThrfsTer?) n.2178del n.2117del n.2071del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244166C>A | CA346071668 | DNMT3A | c.159G>T c.986G>T (n.986G>T) c.1171G>T (p.Asp391Tyr) c.1840G>T (p.Asp614Tyr) c.1273G>T (p.Asp425Tyr) n.159G>T c.1396G>T (p.Asp466Tyr) c.1693G>T (p.Asp565Tyr) c.1675G>T (p.Asp559Tyr) c.1384G>T (p.Asp462Tyr) c.1312G>T (p.Asp438Tyr) n.2178G>T n.2117G>T n.2071G>T | gnomAD v4 COSMIC COSMIC |
2 | g.25244166C= | CA1239262706 | DNMT3A | c.159G= c.986G= (n.986G=) c.1171G= (p.Asp391=) c.1840G= (p.Asp614=) c.1273G= (p.Asp425=) n.159G= c.1396G= (p.Asp466=) c.1693G= (p.Asp565=) c.1675G= (p.Asp559=) c.1384G= (p.Asp462=) c.1312G= (p.Asp438=) n.2178G= n.2117G= n.2071G= | |
2 | g.25244166C>G | CA346071669 | DNMT3A | c.159G>C c.986G>C (n.986G>C) c.1171G>C (p.Asp391His) c.1840G>C (p.Asp614His) c.1273G>C (p.Asp425His) n.159G>C c.1396G>C (p.Asp466His) c.1693G>C (p.Asp565His) c.1675G>C (p.Asp559His) c.1384G>C (p.Asp462His) c.1312G>C (p.Asp438His) n.2178G>C n.2117G>C n.2071G>C | dbSNP |
2 | g.25244166C>T | CA346071670 | DNMT3A | c.159G>A c.986G>A (n.986G>A) c.1171G>A (p.Asp391Asn) c.1840G>A (p.Asp614Asn) c.1273G>A (p.Asp425Asn) n.159G>A c.1396G>A (p.Asp466Asn) c.1693G>A (p.Asp565Asn) c.1675G>A (p.Asp559Asn) c.1384G>A (p.Asp462Asn) c.1312G>A (p.Asp438Asn) n.2178G>A n.2117G>A n.2071G>A | ClinVar dbSNP COSMIC |
2 | g.25244167G>A | CA1555863 | DNMT3A | c.158C>T c.985C>T (n.985C>T) c.1170C>T (p.His390=) c.1839C>T (p.His613=) c.1272C>T (p.His424=) n.158C>T c.1395C>T (p.His465=) c.1692C>T (p.His564=) c.1674C>T (p.His558=) c.1383C>T (p.His461=) c.1311C>T (p.His437=) n.2177C>T n.2116C>T n.2070C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244167G>C | CA346071671 | DNMT3A | c.158C>G c.985C>G (n.985C>G) c.1170C>G (p.His390Gln) c.1839C>G (p.His613Gln) c.1272C>G (p.His424Gln) n.158C>G c.1395C>G (p.His465Gln) c.1692C>G (p.His564Gln) c.1674C>G (p.His558Gln) c.1383C>G (p.His461Gln) c.1311C>G (p.His437Gln) n.2177C>G n.2116C>G n.2070C>G | |
2 | g.25244167G= | CA1239262710 | DNMT3A | c.158C= c.985C= (n.985C=) c.1170C= (p.His390=) c.1839C= (p.His613=) c.1272C= (p.His424=) n.158C= c.1395C= (p.His465=) c.1692C= (p.His564=) c.1674C= (p.His558=) c.1383C= (p.His461=) c.1311C= (p.His437=) n.2177C= n.2116C= n.2070C= | |
2 | g.25244167G>T | CA346071672 | DNMT3A | c.158C>A c.985C>A (n.985C>A) c.1170C>A (p.His390Gln) c.1839C>A (p.His613Gln) c.1272C>A (p.His424Gln) n.158C>A c.1395C>A (p.His465Gln) c.1692C>A (p.His564Gln) c.1674C>A (p.His558Gln) c.1383C>A (p.His461Gln) c.1311C>A (p.His437Gln) n.2177C>A n.2116C>A n.2070C>A | |
2 | g.25244167_25244168delinsGT | CA1239262711 | DNMT3A | c.157_158delinsAC c.984_985delinsAC (n.984_985delinsAC) c.1169_1170delinsAC (p.His390=) c.1838_1839delinsAC (p.His613=) c.1271_1272delinsAC (p.His424=) n.157_158delinsAC c.1394_1395delinsAC (p.His465=) c.1691_1692delinsAC (p.His564=) c.1673_1674delinsAC (p.His558=) c.1382_1383delinsAC (p.His461=) c.1310_1311delinsAC (p.His437=) n.2176_2177delinsAC n.2115_2116delinsAC n.2069_2070delinsAC | |
2 | g.25244168del | CA767176201 | DNMT3A | c.157del c.984del (n.984del) c.1169del (p.His390ProfsTer?) c.1838del (p.His613ProfsTer?) c.1271del (p.His424ProfsTer?) n.157del c.1394del (p.His465ProfsTer?) c.1691del (p.His564ProfsTer?) c.1673del (p.His558ProfsTer?) c.1382del (p.His461ProfsTer?) c.1310del (p.His437ProfsTer?) n.2176del n.2115del n.2069del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244168T>A | CA346071675 | DNMT3A | c.157A>T c.984A>T (n.984A>T) c.1169A>T (p.His390Leu) c.1838A>T (p.His613Leu) c.1271A>T (p.His424Leu) n.157A>T c.1394A>T (p.His465Leu) c.1691A>T (p.His564Leu) c.1673A>T (p.His558Leu) c.1382A>T (p.His461Leu) c.1310A>T (p.His437Leu) n.2176A>T n.2115A>T n.2069A>T | |
2 | g.25244168T>C | CA346071674 | DNMT3A | c.157A>G c.984A>G (n.984A>G) c.1169A>G (p.His390Arg) c.1838A>G (p.His613Arg) c.1271A>G (p.His424Arg) n.157A>G c.1394A>G (p.His465Arg) c.1691A>G (p.His564Arg) c.1673A>G (p.His558Arg) c.1382A>G (p.His461Arg) c.1310A>G (p.His437Arg) n.2176A>G n.2115A>G n.2069A>G | |
2 | g.25244168T>G | CA346071673 | DNMT3A | c.157A>C c.984A>C (n.984A>C) c.1169A>C (p.His390Pro) c.1838A>C (p.His613Pro) c.1271A>C (p.His424Pro) n.157A>C c.1394A>C (p.His465Pro) c.1691A>C (p.His564Pro) c.1673A>C (p.His558Pro) c.1382A>C (p.His461Pro) c.1310A>C (p.His437Pro) n.2176A>C n.2115A>C n.2069A>C | |
2 | g.25244169G>A | CA346071676 | DNMT3A | c.156C>T c.983C>T (n.983C>T) c.1168C>T (p.His390Tyr) c.1837C>T (p.His613Tyr) c.1270C>T (p.His424Tyr) n.156C>T c.1393C>T (p.His465Tyr) c.1690C>T (p.His564Tyr) c.1672C>T (p.His558Tyr) c.1381C>T (p.His461Tyr) c.1309C>T (p.His437Tyr) n.2175C>T n.2114C>T n.2068C>T | |
2 | g.25244169G>C | CA1555864 | DNMT3A | c.156C>G c.983C>G (n.983C>G) c.1168C>G (p.His390Asp) c.1837C>G (p.His613Asp) c.1270C>G (p.His424Asp) n.156C>G c.1393C>G (p.His465Asp) c.1690C>G (p.His564Asp) c.1672C>G (p.His558Asp) c.1381C>G (p.His461Asp) c.1309C>G (p.His437Asp) n.2175C>G n.2114C>G n.2068C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244169G= | CA1239262715 | DNMT3A | c.156C= c.983C= (n.983C=) c.1168C= (p.His390=) c.1837C= (p.His613=) c.1270C= (p.His424=) n.156C= c.1393C= (p.His465=) c.1690C= (p.His564=) c.1672C= (p.His558=) c.1381C= (p.His461=) c.1309C= (p.His437=) n.2175C= n.2114C= n.2068C= | |
2 | g.25244169G>T | CA346071677 | DNMT3A | c.156C>A c.983C>A (n.983C>A) c.1168C>A (p.His390Asn) c.1837C>A (p.His613Asn) c.1270C>A (p.His424Asn) n.156C>A c.1393C>A (p.His465Asn) c.1690C>A (p.His564Asn) c.1672C>A (p.His558Asn) c.1381C>A (p.His461Asn) c.1309C>A (p.His437Asn) n.2175C>A n.2114C>A n.2068C>A | |
2 | g.25244170G>A | CA425182222 | DNMT3A | c.155C>T c.982C>T (n.982C>T) c.1167C>T (p.Asn389=) c.1836C>T (p.Asn612=) c.1269C>T (p.Asn423=) n.155C>T c.1392C>T (p.Asn464=) c.1689C>T (p.Asn563=) c.1671C>T (p.Asn557=) c.1380C>T (p.Asn460=) c.1308C>T (p.Asn436=) n.2174C>T n.2113C>T n.2067C>T | dbSNP |
2 | g.25244170G>C | CA346071678 | DNMT3A | c.155C>G c.982C>G (n.982C>G) c.1167C>G (p.Asn389Lys) c.1836C>G (p.Asn612Lys) c.1269C>G (p.Asn423Lys) n.155C>G c.1392C>G (p.Asn464Lys) c.1689C>G (p.Asn563Lys) c.1671C>G (p.Asn557Lys) c.1380C>G (p.Asn460Lys) c.1308C>G (p.Asn436Lys) n.2174C>G n.2113C>G n.2067C>G | |
2 | g.25244170G= | CA1239262717 | DNMT3A | c.155C= c.982C= (n.982C=) c.1167C= (p.Asn389=) c.1836C= (p.Asn612=) c.1269C= (p.Asn423=) n.155C= c.1392C= (p.Asn464=) c.1689C= (p.Asn563=) c.1671C= (p.Asn557=) c.1380C= (p.Asn460=) c.1308C= (p.Asn436=) n.2174C= n.2113C= n.2067C= | |
2 | g.25244170G>T | CA346071679 | DNMT3A | c.155C>A c.982C>A (n.982C>A) c.1167C>A (p.Asn389Lys) c.1836C>A (p.Asn612Lys) c.1269C>A (p.Asn423Lys) n.155C>A c.1392C>A (p.Asn464Lys) c.1689C>A (p.Asn563Lys) c.1671C>A (p.Asn557Lys) c.1380C>A (p.Asn460Lys) c.1308C>A (p.Asn436Lys) n.2174C>A n.2113C>A n.2067C>A | |
2 | g.25244171T>A | CA346071680 | DNMT3A | c.154A>T c.981A>T (n.981A>T) c.1166A>T (p.Asn389Ile) c.1835A>T (p.Asn612Ile) c.1268A>T (p.Asn423Ile) n.154A>T c.1391A>T (p.Asn464Ile) c.1688A>T (p.Asn563Ile) c.1670A>T (p.Asn557Ile) c.1379A>T (p.Asn460Ile) c.1307A>T (p.Asn436Ile) n.2173A>T n.2112A>T n.2066A>T | |
2 | g.25244171T>C | CA346071681 | DNMT3A | c.154A>G c.981A>G (n.981A>G) c.1166A>G (p.Asn389Ser) c.1835A>G (p.Asn612Ser) c.1268A>G (p.Asn423Ser) n.154A>G c.1391A>G (p.Asn464Ser) c.1688A>G (p.Asn563Ser) c.1670A>G (p.Asn557Ser) c.1379A>G (p.Asn460Ser) c.1307A>G (p.Asn436Ser) n.2173A>G n.2112A>G n.2066A>G | |
2 | g.25244171T>G | CA346071682 | DNMT3A | c.154A>C c.981A>C (n.981A>C) c.1166A>C (p.Asn389Thr) c.1835A>C (p.Asn612Thr) c.1268A>C (p.Asn423Thr) n.154A>C c.1391A>C (p.Asn464Thr) c.1688A>C (p.Asn563Thr) c.1670A>C (p.Asn557Thr) c.1379A>C (p.Asn460Thr) c.1307A>C (p.Asn436Thr) n.2173A>C n.2112A>C n.2066A>C | |
2 | g.25244172del | CA2576694274 | DNMT3A | c.154del c.981del (n.981del) c.1166del (p.Asn389ThrfsTer?) c.1835del (p.Asn612ThrfsTer?) c.1268del (p.Asn423ThrfsTer?) n.154del c.1391del (p.Asn464ThrfsTer?) c.1688del (p.Asn563ThrfsTer?) c.1670del (p.Asn557ThrfsTer?) c.1379del (p.Asn460ThrfsTer?) c.1307del (p.Asn436ThrfsTer?) n.2173del n.2112del n.2066del | gnomAD v4 |
2 | g.25244172_25244175del | CA2576694275 | DNMT3A | c.151_154del c.978_981del (n.978_981del) c.1163_1166del (p.Asn388ThrfsTer?) c.1832_1835del (p.Asn611ThrfsTer?) c.1265_1268del (p.Asn422ThrfsTer?) n.151_154del c.1388_1391del (p.Asn463ThrfsTer?) c.1685_1688del (p.Asn562ThrfsTer?) c.1667_1670del (p.Asn556ThrfsTer?) c.1376_1379del (p.Asn459ThrfsTer?) c.1304_1307del (p.Asn435ThrfsTer?) n.2170_2173del n.2109_2112del n.2063_2066del | |
2 | g.25244172T>A | CA346071683 | DNMT3A | c.153A>T c.980A>T (n.980A>T) c.1165A>T (p.Asn389Tyr) c.1834A>T (p.Asn612Tyr) c.1267A>T (p.Asn423Tyr) n.153A>T c.1390A>T (p.Asn464Tyr) c.1687A>T (p.Asn563Tyr) c.1669A>T (p.Asn557Tyr) c.1378A>T (p.Asn460Tyr) c.1306A>T (p.Asn436Tyr) n.2172A>T n.2111A>T n.2065A>T | |
2 | g.25244172T>C | CA346071684 | DNMT3A | c.153A>G c.980A>G (n.980A>G) c.1165A>G (p.Asn389Asp) c.1834A>G (p.Asn612Asp) c.1267A>G (p.Asn423Asp) n.153A>G c.1390A>G (p.Asn464Asp) c.1687A>G (p.Asn563Asp) c.1669A>G (p.Asn557Asp) c.1378A>G (p.Asn460Asp) c.1306A>G (p.Asn436Asp) n.2172A>G n.2111A>G n.2065A>G | |
2 | g.25244172T>G | CA346071685 | DNMT3A | c.153A>C c.980A>C (n.980A>C) c.1165A>C (p.Asn389His) c.1834A>C (p.Asn612His) c.1267A>C (p.Asn423His) n.153A>C c.1390A>C (p.Asn464His) c.1687A>C (p.Asn563His) c.1669A>C (p.Asn557His) c.1378A>C (p.Asn460His) c.1306A>C (p.Asn436His) n.2172A>C n.2111A>C n.2065A>C | |
2 | g.25244173A>C | CA346071686 | DNMT3A | c.152T>G c.979T>G (n.979T>G) c.1164T>G (p.Asn388Lys) c.1833T>G (p.Asn611Lys) c.1266T>G (p.Asn422Lys) n.152T>G c.1389T>G (p.Asn463Lys) c.1686T>G (p.Asn562Lys) c.1668T>G (p.Asn556Lys) c.1377T>G (p.Asn459Lys) c.1305T>G (p.Asn435Lys) n.2171T>G n.2110T>G n.2064T>G | |
2 | g.25244173A>G | CA425182224 | DNMT3A | c.152T>C c.979T>C (n.979T>C) c.1164T>C (p.Asn388=) c.1833T>C (p.Asn611=) c.1266T>C (p.Asn422=) n.152T>C c.1389T>C (p.Asn463=) c.1686T>C (p.Asn562=) c.1668T>C (p.Asn556=) c.1377T>C (p.Asn459=) c.1305T>C (p.Asn435=) n.2171T>C n.2110T>C n.2064T>C | |
2 | g.25244173A>T | CA346071687 | DNMT3A | c.152T>A c.979T>A (n.979T>A) c.1164T>A (p.Asn388Lys) c.1833T>A (p.Asn611Lys) c.1266T>A (p.Asn422Lys) n.152T>A c.1389T>A (p.Asn463Lys) c.1686T>A (p.Asn562Lys) c.1668T>A (p.Asn556Lys) c.1377T>A (p.Asn459Lys) c.1305T>A (p.Asn435Lys) n.2171T>A n.2110T>A n.2064T>A | ClinVar |
2 | g.25244174_25244180del | CA2576694276 | DNMT3A | c.146_152del c.973_979del (n.973_979del) c.1158_1164del (p.Phe386LeufsTer?) c.1827_1833del (p.Phe609LeufsTer?) c.1260_1266del (p.Phe420LeufsTer?) n.146_152del c.1383_1389del (p.Phe461LeufsTer?) c.1680_1686del (p.Phe560LeufsTer?) c.1662_1668del (p.Phe554LeufsTer?) c.1371_1377del (p.Phe457LeufsTer?) c.1299_1305del (p.Phe433LeufsTer?) n.2165_2171del n.2104_2110del n.2058_2064del | |
2 | g.25244174T>A | CA346071690 | DNMT3A | c.151A>T c.978A>T (n.978A>T) c.1163A>T (p.Asn388Ile) c.1832A>T (p.Asn611Ile) c.1265A>T (p.Asn422Ile) n.151A>T c.1388A>T (p.Asn463Ile) c.1685A>T (p.Asn562Ile) c.1667A>T (p.Asn556Ile) c.1376A>T (p.Asn459Ile) c.1304A>T (p.Asn435Ile) n.2170A>T n.2109A>T n.2063A>T | |
2 | g.25244174T>C | CA346071688 | DNMT3A | c.151A>G c.978A>G (n.978A>G) c.1163A>G (p.Asn388Ser) c.1832A>G (p.Asn611Ser) c.1265A>G (p.Asn422Ser) n.151A>G c.1388A>G (p.Asn463Ser) c.1685A>G (p.Asn562Ser) c.1667A>G (p.Asn556Ser) c.1376A>G (p.Asn459Ser) c.1304A>G (p.Asn435Ser) n.2170A>G n.2109A>G n.2063A>G | |
2 | g.25244174T>G | CA346071689 | DNMT3A | c.151A>C c.978A>C (n.978A>C) c.1163A>C (p.Asn388Thr) c.1832A>C (p.Asn611Thr) c.1265A>C (p.Asn422Thr) n.151A>C c.1388A>C (p.Asn463Thr) c.1685A>C (p.Asn562Thr) c.1667A>C (p.Asn556Thr) c.1376A>C (p.Asn459Thr) c.1304A>C (p.Asn435Thr) n.2170A>C n.2109A>C n.2063A>C | |
2 | g.25244175T>A | CA346071691 | DNMT3A | c.150A>T c.977A>T (n.977A>T) c.1162A>T (p.Asn388Tyr) c.1831A>T (p.Asn611Tyr) c.1264A>T (p.Asn422Tyr) n.150A>T c.1387A>T (p.Asn463Tyr) c.1684A>T (p.Asn562Tyr) c.1666A>T (p.Asn556Tyr) c.1375A>T (p.Asn459Tyr) c.1303A>T (p.Asn435Tyr) n.2169A>T n.2108A>T n.2062A>T | |
2 | g.25244175T>C | CA346071692 | DNMT3A | c.150A>G c.977A>G (n.977A>G) c.1162A>G (p.Asn388Asp) c.1831A>G (p.Asn611Asp) c.1264A>G (p.Asn422Asp) n.150A>G c.1387A>G (p.Asn463Asp) c.1684A>G (p.Asn562Asp) c.1666A>G (p.Asn556Asp) c.1375A>G (p.Asn459Asp) c.1303A>G (p.Asn435Asp) n.2169A>G n.2108A>G n.2062A>G | |
2 | g.25244175T>G | CA346071693 | DNMT3A | c.150A>C c.977A>C (n.977A>C) c.1162A>C (p.Asn388His) c.1831A>C (p.Asn611His) c.1264A>C (p.Asn422His) n.150A>C c.1387A>C (p.Asn463His) c.1684A>C (p.Asn562His) c.1666A>C (p.Asn556His) c.1375A>C (p.Asn459His) c.1303A>C (p.Asn435His) n.2169A>C n.2108A>C n.2062A>C | |
2 | g.25244176A= | CA1239262719 | DNMT3A | c.149T= c.976T= (n.976T=) c.1161T= (p.Ala387=) c.1830T= (p.Ala610=) c.1263T= (p.Ala421=) n.149T= c.1386T= (p.Ala462=) c.1683T= (p.Ala561=) c.1665T= (p.Ala555=) c.1374T= (p.Ala458=) c.1302T= (p.Ala434=) n.2168T= n.2107T= n.2061T= | |
2 | g.25244176A>C | CA425182225 | DNMT3A | c.149T>G c.976T>G (n.976T>G) c.1161T>G (p.Ala387=) c.1830T>G (p.Ala610=) c.1263T>G (p.Ala421=) n.149T>G c.1386T>G (p.Ala462=) c.1683T>G (p.Ala561=) c.1665T>G (p.Ala555=) c.1374T>G (p.Ala458=) c.1302T>G (p.Ala434=) n.2168T>G n.2107T>G n.2061T>G | |
2 | g.25244176A>G | CA425182227 | DNMT3A | c.149T>C c.976T>C (n.976T>C) c.1161T>C (p.Ala387=) c.1830T>C (p.Ala610=) c.1263T>C (p.Ala421=) n.149T>C c.1386T>C (p.Ala462=) c.1683T>C (p.Ala561=) c.1665T>C (p.Ala555=) c.1374T>C (p.Ala458=) c.1302T>C (p.Ala434=) n.2168T>C n.2107T>C n.2061T>C | dbSNP gnomAD v4 |
2 | g.25244176A>T | CA425182226 | DNMT3A | c.149T>A c.976T>A (n.976T>A) c.1161T>A (p.Ala387=) c.1830T>A (p.Ala610=) c.1263T>A (p.Ala421=) n.149T>A c.1386T>A (p.Ala462=) c.1683T>A (p.Ala561=) c.1665T>A (p.Ala555=) c.1374T>A (p.Ala458=) c.1302T>A (p.Ala434=) n.2168T>A n.2107T>A n.2061T>A | |
2 | g.25244179_25244194del | CA2658168411 | DNMT3A | c.134_149del c.961_976del (n.961_976del) c.1146_1161del (p.Gln383IlefsTer?) c.1815_1830del (p.Gln606IlefsTer?) c.1248_1263del (p.Gln417IlefsTer?) n.134_149del c.1371_1386del (p.Gln458IlefsTer?) c.1668_1683del (p.Gln557IlefsTer?) c.1650_1665del (p.Gln551IlefsTer?) c.1359_1374del (p.Gln454IlefsTer?) c.1287_1302del (p.Gln430IlefsTer?) n.2153_2168del n.2092_2107del n.2046_2061del | gnomAD v4 |
2 | g.25244177G>A | CA346071694 | DNMT3A | c.148C>T c.975C>T (n.975C>T) c.1160C>T (p.Ala387Val) c.1829C>T (p.Ala610Val) c.1262C>T (p.Ala421Val) n.148C>T c.1385C>T (p.Ala462Val) c.1682C>T (p.Ala561Val) c.1664C>T (p.Ala555Val) c.1373C>T (p.Ala458Val) c.1301C>T (p.Ala434Val) n.2167C>T n.2106C>T n.2060C>T | COSMIC COSMIC |
2 | g.25244177G>C | CA43703277 | DNMT3A | c.148C>G c.975C>G (n.975C>G) c.1160C>G (p.Ala387Gly) c.1829C>G (p.Ala610Gly) c.1262C>G (p.Ala421Gly) n.148C>G c.1385C>G (p.Ala462Gly) c.1682C>G (p.Ala561Gly) c.1664C>G (p.Ala555Gly) c.1373C>G (p.Ala458Gly) c.1301C>G (p.Ala434Gly) n.2167C>G n.2106C>G n.2060C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244177G= | CA1239262721 | DNMT3A | c.148C= c.975C= (n.975C=) c.1160C= (p.Ala387=) c.1829C= (p.Ala610=) c.1262C= (p.Ala421=) n.148C= c.1385C= (p.Ala462=) c.1682C= (p.Ala561=) c.1664C= (p.Ala555=) c.1373C= (p.Ala458=) c.1301C= (p.Ala434=) n.2167C= n.2106C= n.2060C= | |
2 | g.25244177G>T | CA346071695 | DNMT3A | c.148C>A c.975C>A (n.975C>A) c.1160C>A (p.Ala387Asp) c.1829C>A (p.Ala610Asp) c.1262C>A (p.Ala421Asp) n.148C>A c.1385C>A (p.Ala462Asp) c.1682C>A (p.Ala561Asp) c.1664C>A (p.Ala555Asp) c.1373C>A (p.Ala458Asp) c.1301C>A (p.Ala434Asp) n.2167C>A n.2106C>A n.2060C>A | |
2 | g.25244178C>A | CA346071696 | DNMT3A | c.147G>T c.974G>T (n.974G>T) c.1159G>T (p.Ala387Ser) c.1828G>T (p.Ala610Ser) c.1261G>T (p.Ala421Ser) n.147G>T c.1384G>T (p.Ala462Ser) c.1681G>T (p.Ala561Ser) c.1663G>T (p.Ala555Ser) c.1372G>T (p.Ala458Ser) c.1300G>T (p.Ala434Ser) n.2166G>T n.2105G>T n.2059G>T | |
2 | g.25244178C>G | CA346071697 | DNMT3A | c.147G>C c.974G>C (n.974G>C) c.1159G>C (p.Ala387Pro) c.1828G>C (p.Ala610Pro) c.1261G>C (p.Ala421Pro) n.147G>C c.1384G>C (p.Ala462Pro) c.1681G>C (p.Ala561Pro) c.1663G>C (p.Ala555Pro) c.1372G>C (p.Ala458Pro) c.1300G>C (p.Ala434Pro) n.2166G>C n.2105G>C n.2059G>C | dbSNP |
2 | g.25244178C>T | CA346071698 | DNMT3A | c.147G>A c.974G>A (n.974G>A) c.1159G>A (p.Ala387Thr) c.1828G>A (p.Ala610Thr) c.1261G>A (p.Ala421Thr) n.147G>A c.1384G>A (p.Ala462Thr) c.1681G>A (p.Ala561Thr) c.1663G>A (p.Ala555Thr) c.1372G>A (p.Ala458Thr) c.1300G>A (p.Ala434Thr) n.2166G>A n.2105G>A n.2059G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244179del | CA531760990 | DNMT3A | c.146del c.973del (n.973del) c.1158del (p.Phe386LeufsTer?) c.1827del (p.Phe609LeufsTer?) c.1260del (p.Phe420LeufsTer?) n.146del c.1383del (p.Phe461LeufsTer?) c.1680del (p.Phe560LeufsTer?) c.1662del (p.Phe554LeufsTer?) c.1371del (p.Phe457LeufsTer?) c.1299del (p.Phe433LeufsTer?) n.2165del n.2104del n.2058del | gnomAD v2 gnomAD v4 |
2 | g.25244179G>A | CA1555865 | DNMT3A | c.146C>T c.973C>T (n.973C>T) c.1158C>T (p.Phe386=) c.1827C>T (p.Phe609=) c.1260C>T (p.Phe420=) n.146C>T c.1383C>T (p.Phe461=) c.1680C>T (p.Phe560=) c.1662C>T (p.Phe554=) c.1371C>T (p.Phe457=) c.1299C>T (p.Phe433=) n.2165C>T n.2104C>T n.2058C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244179G>C | CA346071699 | DNMT3A | c.146C>G c.973C>G (n.973C>G) c.1158C>G (p.Phe386Leu) c.1827C>G (p.Phe609Leu) c.1260C>G (p.Phe420Leu) n.146C>G c.1383C>G (p.Phe461Leu) c.1680C>G (p.Phe560Leu) c.1662C>G (p.Phe554Leu) c.1371C>G (p.Phe457Leu) c.1299C>G (p.Phe433Leu) n.2165C>G n.2104C>G n.2058C>G | |
2 | g.25244179G= | CA1239262726 | DNMT3A | c.146C= c.973C= (n.973C=) c.1158C= (p.Phe386=) c.1827C= (p.Phe609=) c.1260C= (p.Phe420=) n.146C= c.1383C= (p.Phe461=) c.1680C= (p.Phe560=) c.1662C= (p.Phe554=) c.1371C= (p.Phe457=) c.1299C= (p.Phe433=) n.2165C= n.2104C= n.2058C= | |
2 | g.25244179G>T | CA346071700 | DNMT3A | c.146C>A c.973C>A (n.973C>A) c.1158C>A (p.Phe386Leu) c.1827C>A (p.Phe609Leu) c.1260C>A (p.Phe420Leu) n.146C>A c.1383C>A (p.Phe461Leu) c.1680C>A (p.Phe560Leu) c.1662C>A (p.Phe554Leu) c.1371C>A (p.Phe457Leu) c.1299C>A (p.Phe433Leu) n.2165C>A n.2104C>A n.2058C>A | |
2 | g.25244180A>C | CA346071702 | DNMT3A | c.145T>G c.972T>G (n.972T>G) c.1157T>G (p.Phe386Cys) c.1826T>G (p.Phe609Cys) c.1259T>G (p.Phe420Cys) n.145T>G c.1382T>G (p.Phe461Cys) c.1679T>G (p.Phe560Cys) c.1661T>G (p.Phe554Cys) c.1370T>G (p.Phe457Cys) c.1298T>G (p.Phe433Cys) n.2164T>G n.2103T>G n.2057T>G | |
2 | g.25244180A>G | CA346071703 | DNMT3A | c.145T>C c.972T>C (n.972T>C) c.1157T>C (p.Phe386Ser) c.1826T>C (p.Phe609Ser) c.1259T>C (p.Phe420Ser) n.145T>C c.1382T>C (p.Phe461Ser) c.1679T>C (p.Phe560Ser) c.1661T>C (p.Phe554Ser) c.1370T>C (p.Phe457Ser) c.1298T>C (p.Phe433Ser) n.2164T>C n.2103T>C n.2057T>C | |
2 | g.25244180A>T | CA346071701 | DNMT3A | c.145T>A c.972T>A (n.972T>A) c.1157T>A (p.Phe386Tyr) c.1826T>A (p.Phe609Tyr) c.1259T>A (p.Phe420Tyr) n.145T>A c.1382T>A (p.Phe461Tyr) c.1679T>A (p.Phe560Tyr) c.1661T>A (p.Phe554Tyr) c.1370T>A (p.Phe457Tyr) c.1298T>A (p.Phe433Tyr) n.2164T>A n.2103T>A n.2057T>A | |
2 | g.25244181_25244184del | CA2658168422 | DNMT3A | c.142_145del c.969_972del (n.969_972del) c.1154_1157del (p.Phe385SerfsTer?) c.1823_1826del (p.Phe608SerfsTer?) c.1256_1259del (p.Phe419SerfsTer?) n.142_145del c.1379_1382del (p.Phe460SerfsTer?) c.1676_1679del (p.Phe559SerfsTer?) c.1658_1661del (p.Phe553SerfsTer?) c.1367_1370del (p.Phe456SerfsTer?) c.1295_1298del (p.Phe432SerfsTer?) n.2161_2164del n.2100_2103del n.2054_2057del | gnomAD v4 |
2 | g.25244181A>C | CA346071704 | DNMT3A | c.144T>G c.971T>G (n.971T>G) c.1156T>G (p.Phe386Val) c.1825T>G (p.Phe609Val) c.1258T>G (p.Phe420Val) n.144T>G c.1381T>G (p.Phe461Val) c.1678T>G (p.Phe560Val) c.1660T>G (p.Phe554Val) c.1369T>G (p.Phe457Val) c.1297T>G (p.Phe433Val) n.2163T>G n.2102T>G n.2056T>G | |
2 | g.25244181A>G | CA346071705 | DNMT3A | c.144T>C c.971T>C (n.971T>C) c.1156T>C (p.Phe386Leu) c.1825T>C (p.Phe609Leu) c.1258T>C (p.Phe420Leu) n.144T>C c.1381T>C (p.Phe461Leu) c.1678T>C (p.Phe560Leu) c.1660T>C (p.Phe554Leu) c.1369T>C (p.Phe457Leu) c.1297T>C (p.Phe433Leu) n.2163T>C n.2102T>C n.2056T>C | |
2 | g.25244181A>T | CA346071706 | DNMT3A | c.144T>A c.971T>A (n.971T>A) c.1156T>A (p.Phe386Ile) c.1825T>A (p.Phe609Ile) c.1258T>A (p.Phe420Ile) n.144T>A c.1381T>A (p.Phe461Ile) c.1678T>A (p.Phe560Ile) c.1660T>A (p.Phe554Ile) c.1369T>A (p.Phe457Ile) c.1297T>A (p.Phe433Ile) n.2163T>A n.2102T>A n.2056T>A | |
2 | g.25244182_25244183del | CA2658168427 | DNMT3A | c.143_144del c.970_971del (n.970_971del) c.1155_1156del (p.Phe386ArgfsTer2) c.1824_1825del (p.Phe609ArgfsTer2) c.1257_1258del (p.Phe420ArgfsTer2) n.143_144del c.1380_1381del (p.Phe461ArgfsTer2) c.1677_1678del (p.Phe560ArgfsTer2) c.1659_1660del (p.Phe554ArgfsTer2) c.1368_1369del (p.Phe457ArgfsTer2) c.1296_1297del (p.Phe433ArgfsTer2) n.2162_2163del n.2101_2102del n.2055_2056del | gnomAD v4 |
2 | g.25244181_25244223dup | CA2658168426 | DNMT3A | c.102_144dup c.929_971dup (n.929_971dup) c.1114_1156dup (p.Phe386SerfsTer17) c.1783_1825dup (p.Phe609SerfsTer17) c.1216_1258dup (p.Phe420SerfsTer17) n.102_144dup c.1339_1381dup (p.Phe461SerfsTer17) c.1636_1678dup (p.Phe560SerfsTer17) c.1618_1660dup (p.Phe554SerfsTer17) c.1327_1369dup (p.Phe457SerfsTer17) c.1255_1297dup (p.Phe433SerfsTer17) n.2121_2163dup n.2060_2102dup n.2014_2056dup | gnomAD v4 |
2 | g.25244182G>A | CA425182230 | DNMT3A | c.143C>T c.970C>T (n.970C>T) c.1155C>T (p.Phe385=) c.1824C>T (p.Phe608=) c.1257C>T (p.Phe419=) n.143C>T c.1380C>T (p.Phe460=) c.1677C>T (p.Phe559=) c.1659C>T (p.Phe553=) c.1368C>T (p.Phe456=) c.1296C>T (p.Phe432=) n.2162C>T n.2101C>T n.2055C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244182G>C | CA346071707 | DNMT3A | c.143C>G c.970C>G (n.970C>G) c.1155C>G (p.Phe385Leu) c.1824C>G (p.Phe608Leu) c.1257C>G (p.Phe419Leu) n.143C>G c.1380C>G (p.Phe460Leu) c.1677C>G (p.Phe559Leu) c.1659C>G (p.Phe553Leu) c.1368C>G (p.Phe456Leu) c.1296C>G (p.Phe432Leu) n.2162C>G n.2101C>G n.2055C>G | dbSNP |
2 | g.25244182G= | CA1239262731 | DNMT3A | c.143C= c.970C= (n.970C=) c.1155C= (p.Phe385=) c.1824C= (p.Phe608=) c.1257C= (p.Phe419=) n.143C= c.1380C= (p.Phe460=) c.1677C= (p.Phe559=) c.1659C= (p.Phe553=) c.1368C= (p.Phe456=) c.1296C= (p.Phe432=) n.2162C= n.2101C= n.2055C= | |
2 | g.25244182G>T | CA346071708 | DNMT3A | c.143C>A c.970C>A (n.970C>A) c.1155C>A (p.Phe385Leu) c.1824C>A (p.Phe608Leu) c.1257C>A (p.Phe419Leu) n.143C>A c.1380C>A (p.Phe460Leu) c.1677C>A (p.Phe559Leu) c.1659C>A (p.Phe553Leu) c.1368C>A (p.Phe456Leu) c.1296C>A (p.Phe432Leu) n.2162C>A n.2101C>A n.2055C>A | |
2 | g.25244183A>C | CA346071709 | DNMT3A | c.142T>G c.969T>G (n.969T>G) c.1154T>G (p.Phe385Cys) c.1823T>G (p.Phe608Cys) c.1256T>G (p.Phe419Cys) n.142T>G c.1379T>G (p.Phe460Cys) c.1676T>G (p.Phe559Cys) c.1658T>G (p.Phe553Cys) c.1367T>G (p.Phe456Cys) c.1295T>G (p.Phe432Cys) n.2161T>G n.2100T>G n.2054T>G | |
2 | g.25244183A>G | CA346071710 | DNMT3A | c.142T>C c.969T>C (n.969T>C) c.1154T>C (p.Phe385Ser) c.1823T>C (p.Phe608Ser) c.1256T>C (p.Phe419Ser) n.142T>C c.1379T>C (p.Phe460Ser) c.1676T>C (p.Phe559Ser) c.1658T>C (p.Phe553Ser) c.1367T>C (p.Phe456Ser) c.1295T>C (p.Phe432Ser) n.2161T>C n.2100T>C n.2054T>C | |
2 | g.25244183A>T | CA346071711 | DNMT3A | c.142T>A c.969T>A (n.969T>A) c.1154T>A (p.Phe385Tyr) c.1823T>A (p.Phe608Tyr) c.1256T>A (p.Phe419Tyr) n.142T>A c.1379T>A (p.Phe460Tyr) c.1676T>A (p.Phe559Tyr) c.1658T>A (p.Phe553Tyr) c.1367T>A (p.Phe456Tyr) c.1295T>A (p.Phe432Tyr) n.2161T>A n.2100T>A n.2054T>A | |
2 | g.25244184del | CA2576694279 | DNMT3A | c.142del c.969del (n.969del) c.1154del (p.Phe385SerfsTer?) c.1823del (p.Phe608SerfsTer?) c.1256del (p.Phe419SerfsTer?) n.142del c.1379del (p.Phe460SerfsTer?) c.1676del (p.Phe559SerfsTer?) c.1658del (p.Phe553SerfsTer?) c.1367del (p.Phe456SerfsTer?) c.1295del (p.Phe432SerfsTer?) n.2161del n.2100del n.2054del | gnomAD v4 |
2 | g.25244183_25244189del | CA2576694278 | DNMT3A | c.136_142del c.963_969del (n.963_969del) c.1148_1154del (p.Gln383ProfsTer?) c.1817_1823del (p.Gln606ProfsTer?) c.1250_1256del (p.Gln417ProfsTer?) n.136_142del c.1373_1379del (p.Gln458ProfsTer?) c.1670_1676del (p.Gln557ProfsTer?) c.1652_1658del (p.Gln551ProfsTer?) c.1361_1367del (p.Gln454ProfsTer?) c.1289_1295del (p.Gln430ProfsTer?) n.2155_2161del n.2094_2100del n.2048_2054del | |
2 | g.25244184A>C | CA346071712 | DNMT3A | c.141T>G c.968T>G (n.968T>G) c.1153T>G (p.Phe385Val) c.1822T>G (p.Phe608Val) c.1255T>G (p.Phe419Val) n.141T>G c.1378T>G (p.Phe460Val) c.1675T>G (p.Phe559Val) c.1657T>G (p.Phe553Val) c.1366T>G (p.Phe456Val) c.1294T>G (p.Phe432Val) n.2160T>G n.2099T>G n.2053T>G | dbSNP |
2 | g.25244184A>G | CA346071713 | DNMT3A | c.141T>C c.968T>C (n.968T>C) c.1153T>C (p.Phe385Leu) c.1822T>C (p.Phe608Leu) c.1255T>C (p.Phe419Leu) n.141T>C c.1378T>C (p.Phe460Leu) c.1675T>C (p.Phe559Leu) c.1657T>C (p.Phe553Leu) c.1366T>C (p.Phe456Leu) c.1294T>C (p.Phe432Leu) n.2160T>C n.2099T>C n.2053T>C | |
2 | g.25244184A>T | CA346071714 | DNMT3A | c.141T>A c.968T>A (n.968T>A) c.1153T>A (p.Phe385Ile) c.1822T>A (p.Phe608Ile) c.1255T>A (p.Phe419Ile) n.141T>A c.1378T>A (p.Phe460Ile) c.1675T>A (p.Phe559Ile) c.1657T>A (p.Phe553Ile) c.1366T>A (p.Phe456Ile) c.1294T>A (p.Phe432Ile) n.2160T>A n.2099T>A n.2053T>A | |
2 | g.25244185del | CA2658168436 | DNMT3A | c.140del c.967del (n.967del) c.1152del (p.Met384IlefsTer?) c.1821del (p.Met607IlefsTer?) c.1254del (p.Met418IlefsTer?) n.140del c.1377del (p.Met459IlefsTer?) c.1674del (p.Met558IlefsTer?) c.1656del (p.Met552IlefsTer?) c.1365del (p.Met455IlefsTer?) c.1293del (p.Met431IlefsTer?) n.2159del n.2098del n.2052del | gnomAD v4 |
2 | g.25244185C>A | CA346071715 | DNMT3A | c.140G>T c.967G>T (n.967G>T) c.1152G>T (p.Met384Ile) c.1821G>T (p.Met607Ile) c.1254G>T (p.Met418Ile) n.140G>T c.1377G>T (p.Met459Ile) c.1674G>T (p.Met558Ile) c.1656G>T (p.Met552Ile) c.1365G>T (p.Met455Ile) c.1293G>T (p.Met431Ile) n.2159G>T n.2098G>T n.2052G>T | |
2 | g.25244185C= | CA1239262733 | DNMT3A | c.140G= c.967G= (n.967G=) c.1152G= (p.Met384=) c.1821G= (p.Met607=) c.1254G= (p.Met418=) n.140G= c.1377G= (p.Met459=) c.1674G= (p.Met558=) c.1656G= (p.Met552=) c.1365G= (p.Met455=) c.1293G= (p.Met431=) n.2159G= n.2098G= n.2052G= | |
2 | g.25244185C>G | CA346071716 | DNMT3A | c.140G>C c.967G>C (n.967G>C) c.1152G>C (p.Met384Ile) c.1821G>C (p.Met607Ile) c.1254G>C (p.Met418Ile) n.140G>C c.1377G>C (p.Met459Ile) c.1674G>C (p.Met558Ile) c.1656G>C (p.Met552Ile) c.1365G>C (p.Met455Ile) c.1293G>C (p.Met431Ile) n.2159G>C n.2098G>C n.2052G>C | |
2 | g.25244185C>T | CA346071717 | DNMT3A | c.140G>A c.967G>A (n.967G>A) c.1152G>A (p.Met384Ile) c.1821G>A (p.Met607Ile) c.1254G>A (p.Met418Ile) n.140G>A c.1377G>A (p.Met459Ile) c.1674G>A (p.Met558Ile) c.1656G>A (p.Met552Ile) c.1365G>A (p.Met455Ile) c.1293G>A (p.Met431Ile) n.2159G>A n.2098G>A n.2052G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244185_25244189dup | CA2576694281 | DNMT3A | c.136_140dup c.963_967dup (n.963_967dup) c.1148_1152dup (p.Phe385ArgfsTer?) c.1817_1821dup (p.Phe608ArgfsTer?) c.1250_1254dup (p.Phe419ArgfsTer?) n.136_140dup c.1373_1377dup (p.Phe460ArgfsTer?) c.1670_1674dup (p.Phe559ArgfsTer?) c.1652_1656dup (p.Phe553ArgfsTer?) c.1361_1365dup (p.Phe456ArgfsTer?) c.1289_1293dup (p.Phe432ArgfsTer?) n.2155_2159dup n.2094_2098dup n.2048_2052dup | |
2 | g.25244186A>C | CA346071720 | DNMT3A | c.139T>G c.966T>G (n.966T>G) c.1151T>G (p.Met384Arg) c.1820T>G (p.Met607Arg) c.1253T>G (p.Met418Arg) n.139T>G c.1376T>G (p.Met459Arg) c.1673T>G (p.Met558Arg) c.1655T>G (p.Met552Arg) c.1364T>G (p.Met455Arg) c.1292T>G (p.Met431Arg) n.2158T>G n.2097T>G n.2051T>G | |
2 | g.25244186A>G | CA346071719 | DNMT3A | c.139T>C c.966T>C (n.966T>C) c.1151T>C (p.Met384Thr) c.1820T>C (p.Met607Thr) c.1253T>C (p.Met418Thr) n.139T>C c.1376T>C (p.Met459Thr) c.1673T>C (p.Met558Thr) c.1655T>C (p.Met552Thr) c.1364T>C (p.Met455Thr) c.1292T>C (p.Met431Thr) n.2158T>C n.2097T>C n.2051T>C | |
2 | g.25244186A>T | CA346071718 | DNMT3A | c.139T>A c.966T>A (n.966T>A) c.1151T>A (p.Met384Lys) c.1820T>A (p.Met607Lys) c.1253T>A (p.Met418Lys) n.139T>A c.1376T>A (p.Met459Lys) c.1673T>A (p.Met558Lys) c.1655T>A (p.Met552Lys) c.1364T>A (p.Met455Lys) c.1292T>A (p.Met431Lys) n.2158T>A n.2097T>A n.2051T>A | |
2 | g.25244187T>A | CA346071721 | DNMT3A | c.138A>T c.965A>T (n.965A>T) c.1150A>T (p.Met384Leu) c.1819A>T (p.Met607Leu) c.1252A>T (p.Met418Leu) n.138A>T c.1375A>T (p.Met459Leu) c.1672A>T (p.Met558Leu) c.1654A>T (p.Met552Leu) c.1363A>T (p.Met455Leu) c.1291A>T (p.Met431Leu) n.2157A>T n.2096A>T n.2050A>T | gnomAD v4 |
2 | g.25244187T>C | CA346071722 | DNMT3A | c.138A>G c.965A>G (n.965A>G) c.1150A>G (p.Met384Val) c.1819A>G (p.Met607Val) c.1252A>G (p.Met418Val) n.138A>G c.1375A>G (p.Met459Val) c.1672A>G (p.Met558Val) c.1654A>G (p.Met552Val) c.1363A>G (p.Met455Val) c.1291A>G (p.Met431Val) n.2157A>G n.2096A>G n.2050A>G | dbSNP gnomAD v4 |
2 | g.25244187T>G | CA346071723 | DNMT3A | c.138A>C c.965A>C (n.965A>C) c.1150A>C (p.Met384Leu) c.1819A>C (p.Met607Leu) c.1252A>C (p.Met418Leu) n.138A>C c.1375A>C (p.Met459Leu) c.1672A>C (p.Met558Leu) c.1654A>C (p.Met552Leu) c.1363A>C (p.Met455Leu) c.1291A>C (p.Met431Leu) n.2157A>C n.2096A>C n.2050A>C | |
2 | g.25244187T= | CA1239262737 | DNMT3A | c.138A= c.965A= (n.965A=) c.1150A= (p.Met384=) c.1819A= (p.Met607=) c.1252A= (p.Met418=) n.138A= c.1375A= (p.Met459=) c.1672A= (p.Met558=) c.1654A= (p.Met552=) c.1363A= (p.Met455=) c.1291A= (p.Met431=) n.2157A= n.2096A= n.2050A= | |
2 | g.25244188_25244189dup | CA2658168438 | DNMT3A | c.137_138dup c.964_965dup (n.964_965dup) c.1149_1150dup (p.Met384ArgfsTer?) c.1818_1819dup (p.Met607ArgfsTer?) c.1251_1252dup (p.Met418ArgfsTer?) n.137_138dup c.1374_1375dup (p.Met459ArgfsTer?) c.1671_1672dup (p.Met558ArgfsTer?) c.1653_1654dup (p.Met552ArgfsTer?) c.1362_1363dup (p.Met455ArgfsTer?) c.1290_1291dup (p.Met431ArgfsTer?) n.2156_2157dup n.2095_2096dup n.2049_2050dup | gnomAD v4 |
2 | g.25244188_25244189del | CA2658168441 | DNMT3A | c.137_138del c.964_965del (n.964_965del) c.1149_1150del (p.Gln383HisfsTer5) c.1818_1819del (p.Gln606HisfsTer5) c.1251_1252del (p.Gln417HisfsTer5) n.137_138del c.1374_1375del (p.Gln458HisfsTer5) c.1671_1672del (p.Gln557HisfsTer5) c.1653_1654del (p.Gln551HisfsTer5) c.1362_1363del (p.Gln454HisfsTer5) c.1290_1291del (p.Gln430HisfsTer5) n.2156_2157del n.2095_2096del n.2049_2050del | gnomAD v4 |
2 | g.25244188C>A | CA346071724 | DNMT3A | c.137G>T c.964G>T (n.964G>T) c.1149G>T (p.Gln383His) c.1818G>T (p.Gln606His) c.1251G>T (p.Gln417His) n.137G>T c.1374G>T (p.Gln458His) c.1671G>T (p.Gln557His) c.1653G>T (p.Gln551His) c.1362G>T (p.Gln454His) c.1290G>T (p.Gln430His) n.2156G>T n.2095G>T n.2049G>T | |
2 | g.25244188C>G | CA346071725 | DNMT3A | c.137G>C c.964G>C (n.964G>C) c.1149G>C (p.Gln383His) c.1818G>C (p.Gln606His) c.1251G>C (p.Gln417His) n.137G>C c.1374G>C (p.Gln458His) c.1671G>C (p.Gln557His) c.1653G>C (p.Gln551His) c.1362G>C (p.Gln454His) c.1290G>C (p.Gln430His) n.2156G>C n.2095G>C n.2049G>C | |
2 | g.25244188C>T | CA425182231 | DNMT3A | c.137G>A c.964G>A (n.964G>A) c.1149G>A (p.Gln383=) c.1818G>A (p.Gln606=) c.1251G>A (p.Gln417=) n.137G>A c.1374G>A (p.Gln458=) c.1671G>A (p.Gln557=) c.1653G>A (p.Gln551=) c.1362G>A (p.Gln454=) c.1290G>A (p.Gln430=) n.2156G>A n.2095G>A n.2049G>A | |
2 | g.25244188dup | CA2658168444 | DNMT3A | c.137dup c.964dup (n.964dup) c.1149dup (p.Met384AspfsTer5) c.1818dup (p.Met607AspfsTer5) c.1251dup (p.Met418AspfsTer5) n.137dup c.1374dup (p.Met459AspfsTer5) c.1671dup (p.Met558AspfsTer5) c.1653dup (p.Met552AspfsTer5) c.1362dup (p.Met455AspfsTer5) c.1290dup (p.Met431AspfsTer5) n.2156dup n.2095dup n.2049dup | gnomAD v4 |
2 | g.25244189T>A | CA346071726 | DNMT3A | c.136A>T c.963A>T (n.963A>T) c.1148A>T (p.Gln383Leu) c.1817A>T (p.Gln606Leu) c.1250A>T (p.Gln417Leu) n.136A>T c.1373A>T (p.Gln458Leu) c.1670A>T (p.Gln557Leu) c.1652A>T (p.Gln551Leu) c.1361A>T (p.Gln454Leu) c.1289A>T (p.Gln430Leu) n.2155A>T n.2094A>T n.2048A>T | |
2 | g.25244189T>C | CA346071727 | DNMT3A | c.136A>G c.963A>G (n.963A>G) c.1148A>G (p.Gln383Arg) c.1817A>G (p.Gln606Arg) c.1250A>G (p.Gln417Arg) n.136A>G c.1373A>G (p.Gln458Arg) c.1670A>G (p.Gln557Arg) c.1652A>G (p.Gln551Arg) c.1361A>G (p.Gln454Arg) c.1289A>G (p.Gln430Arg) n.2155A>G n.2094A>G n.2048A>G | ClinVar |
2 | g.25244189T>G | CA346071728 | DNMT3A | c.136A>C c.963A>C (n.963A>C) c.1148A>C (p.Gln383Pro) c.1817A>C (p.Gln606Pro) c.1250A>C (p.Gln417Pro) n.136A>C c.1373A>C (p.Gln458Pro) c.1670A>C (p.Gln557Pro) c.1652A>C (p.Gln551Pro) c.1361A>C (p.Gln454Pro) c.1289A>C (p.Gln430Pro) n.2155A>C n.2094A>C n.2048A>C | |
2 | g.25244189_25244190delinsTG | CA1239262743 | DNMT3A | c.135_136delinsCA c.962_963delinsCA (n.962_963delinsCA) c.1147_1148delinsCA (p.Gln383=) c.1816_1817delinsCA (p.Gln606=) c.1249_1250delinsCA (p.Gln417=) n.135_136delinsCA c.1372_1373delinsCA (p.Gln458=) c.1669_1670delinsCA (p.Gln557=) c.1651_1652delinsCA (p.Gln551=) c.1360_1361delinsCA (p.Gln454=) c.1288_1289delinsCA (p.Gln430=) n.2154_2155delinsCA n.2093_2094delinsCA n.2047_2048delinsCA | |
2 | g.25244190G>A | CA346071729 | DNMT3A | c.135C>T c.962C>T (n.962C>T) c.1147C>T (p.Gln383Ter) c.1816C>T (p.Gln606Ter) c.1249C>T (p.Gln417Ter) n.135C>T c.1372C>T (p.Gln458Ter) c.1669C>T (p.Gln557Ter) c.1651C>T (p.Gln551Ter) c.1360C>T (p.Gln454Ter) c.1288C>T (p.Gln430Ter) n.2154C>T n.2093C>T n.2047C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244190G>C | CA346071730 | DNMT3A | c.135C>G c.962C>G (n.962C>G) c.1147C>G (p.Gln383Glu) c.1816C>G (p.Gln606Glu) c.1249C>G (p.Gln417Glu) n.135C>G c.1372C>G (p.Gln458Glu) c.1669C>G (p.Gln557Glu) c.1651C>G (p.Gln551Glu) c.1360C>G (p.Gln454Glu) c.1288C>G (p.Gln430Glu) n.2154C>G n.2093C>G n.2047C>G | |
2 | g.25244190G= | CA1239262749 | DNMT3A | c.135C= c.962C= (n.962C=) c.1147C= (p.Gln383=) c.1816C= (p.Gln606=) c.1249C= (p.Gln417=) n.135C= c.1372C= (p.Gln458=) c.1669C= (p.Gln557=) c.1651C= (p.Gln551=) c.1360C= (p.Gln454=) c.1288C= (p.Gln430=) n.2154C= n.2093C= n.2047C= | |
2 | g.25244190G>T | CA346071731 | DNMT3A | c.135C>A c.962C>A (n.962C>A) c.1147C>A (p.Gln383Lys) c.1816C>A (p.Gln606Lys) c.1249C>A (p.Gln417Lys) n.135C>A c.1372C>A (p.Gln458Lys) c.1669C>A (p.Gln557Lys) c.1651C>A (p.Gln551Lys) c.1360C>A (p.Gln454Lys) c.1288C>A (p.Gln430Lys) n.2154C>A n.2093C>A n.2047C>A | COSMIC COSMIC |
2 | g.25244191del | CA1239262748 | DNMT3A | c.135del c.962del (n.962del) c.1147del (p.Gln383ArgfsTer?) c.1816del (p.Gln606ArgfsTer?) c.1249del (p.Gln417ArgfsTer?) n.135del c.1372del (p.Gln458ArgfsTer?) c.1669del (p.Gln557ArgfsTer?) c.1651del (p.Gln551ArgfsTer?) c.1360del (p.Gln454ArgfsTer?) c.1288del (p.Gln430ArgfsTer?) n.2154del n.2093del n.2047del | dbSNP |
2 | g.25244191G>A | CA425182232 | DNMT3A | c.134C>T c.961C>T (n.961C>T) c.1146C>T (p.Leu382=) c.1815C>T (p.Leu605=) c.1248C>T (p.Leu416=) n.134C>T c.1371C>T (p.Leu457=) c.1668C>T (p.Leu556=) c.1650C>T (p.Leu550=) c.1359C>T (p.Leu453=) c.1287C>T (p.Leu429=) n.2153C>T n.2092C>T n.2046C>T | COSMIC COSMIC |
2 | g.25244191G>C | CA425182233 | DNMT3A | c.134C>G c.961C>G (n.961C>G) c.1146C>G (p.Leu382=) c.1815C>G (p.Leu605=) c.1248C>G (p.Leu416=) n.134C>G c.1371C>G (p.Leu457=) c.1668C>G (p.Leu556=) c.1650C>G (p.Leu550=) c.1359C>G (p.Leu453=) c.1287C>G (p.Leu429=) n.2153C>G n.2092C>G n.2046C>G | |
2 | g.25244191G>T | CA425182234 | DNMT3A | c.134C>A c.961C>A (n.961C>A) c.1146C>A (p.Leu382=) c.1815C>A (p.Leu605=) c.1248C>A (p.Leu416=) n.134C>A c.1371C>A (p.Leu457=) c.1668C>A (p.Leu556=) c.1650C>A (p.Leu550=) c.1359C>A (p.Leu453=) c.1287C>A (p.Leu429=) n.2153C>A n.2092C>A n.2046C>A | |
2 | g.25244192A= | CA1239262753 | DNMT3A | c.133T= c.960T= (n.960T=) c.1145T= (p.Leu382=) c.1814T= (p.Leu605=) c.1247T= (p.Leu416=) n.133T= c.1370T= (p.Leu457=) c.1667T= (p.Leu556=) c.1649T= (p.Leu550=) c.1358T= (p.Leu453=) c.1286T= (p.Leu429=) n.2152T= n.2091T= n.2045T= | |
2 | g.25244192A>C | CA346071732 | DNMT3A | c.133T>G c.960T>G (n.960T>G) c.1145T>G (p.Leu382Arg) c.1814T>G (p.Leu605Arg) c.1247T>G (p.Leu416Arg) n.133T>G c.1370T>G (p.Leu457Arg) c.1667T>G (p.Leu556Arg) c.1649T>G (p.Leu550Arg) c.1358T>G (p.Leu453Arg) c.1286T>G (p.Leu429Arg) n.2152T>G n.2091T>G n.2045T>G | |
2 | g.25244192A>G | CA1555866 | DNMT3A | c.133T>C c.960T>C (n.960T>C) c.1145T>C (p.Leu382Pro) c.1814T>C (p.Leu605Pro) c.1247T>C (p.Leu416Pro) n.133T>C c.1370T>C (p.Leu457Pro) c.1667T>C (p.Leu556Pro) c.1649T>C (p.Leu550Pro) c.1358T>C (p.Leu453Pro) c.1286T>C (p.Leu429Pro) n.2152T>C n.2091T>C n.2045T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244192A>T | CA346071733 | DNMT3A | c.133T>A c.960T>A (n.960T>A) c.1145T>A (p.Leu382His) c.1814T>A (p.Leu605His) c.1247T>A (p.Leu416His) n.133T>A c.1370T>A (p.Leu457His) c.1667T>A (p.Leu556His) c.1649T>A (p.Leu550His) c.1358T>A (p.Leu453His) c.1286T>A (p.Leu429His) n.2152T>A n.2091T>A n.2045T>A | dbSNP |
2 | g.25244193G>A | CA346071736 | DNMT3A | c.132C>T c.959C>T (n.959C>T) c.1144C>T (p.Leu382Phe) c.1813C>T (p.Leu605Phe) c.1246C>T (p.Leu416Phe) n.132C>T c.1369C>T (p.Leu457Phe) c.1666C>T (p.Leu556Phe) c.1648C>T (p.Leu550Phe) c.1357C>T (p.Leu453Phe) c.1285C>T (p.Leu429Phe) n.2151C>T n.2090C>T n.2044C>T | |
2 | g.25244193G>C | CA346071735 | DNMT3A | c.132C>G c.959C>G (n.959C>G) c.1144C>G (p.Leu382Val) c.1813C>G (p.Leu605Val) c.1246C>G (p.Leu416Val) n.132C>G c.1369C>G (p.Leu457Val) c.1666C>G (p.Leu556Val) c.1648C>G (p.Leu550Val) c.1357C>G (p.Leu453Val) c.1285C>G (p.Leu429Val) n.2151C>G n.2090C>G n.2044C>G | |
2 | g.25244193G>T | CA346071734 | DNMT3A | c.132C>A c.959C>A (n.959C>A) c.1144C>A (p.Leu382Ile) c.1813C>A (p.Leu605Ile) c.1246C>A (p.Leu416Ile) n.132C>A c.1369C>A (p.Leu457Ile) c.1666C>A (p.Leu556Ile) c.1648C>A (p.Leu550Ile) c.1357C>A (p.Leu453Ile) c.1285C>A (p.Leu429Ile) n.2151C>A n.2090C>A n.2044C>A | |
2 | g.25244194_25244198dup | CA2658168456 | DNMT3A | c.128_132dup c.955_959dup (n.955_959dup) c.1140_1144dup (p.Leu382ProfsTer?) c.1809_1813dup (p.Leu605ProfsTer?) c.1242_1246dup (p.Leu416ProfsTer?) n.128_132dup c.1365_1369dup (p.Leu457ProfsTer?) c.1662_1666dup (p.Leu556ProfsTer?) c.1644_1648dup (p.Leu550ProfsTer?) c.1353_1357dup (p.Leu453ProfsTer?) c.1281_1285dup (p.Leu429ProfsTer?) n.2147_2151dup n.2086_2090dup n.2040_2044dup | gnomAD v4 |
2 | g.25244194C>A | CA425182237 | DNMT3A | c.131G>T c.958G>T (n.958G>T) c.1143G>T (p.Arg381=) c.1812G>T (p.Arg604=) c.1245G>T (p.Arg415=) n.131G>T c.1368G>T (p.Arg456=) c.1665G>T (p.Arg555=) c.1647G>T (p.Arg549=) c.1356G>T (p.Arg452=) c.1284G>T (p.Arg428=) n.2150G>T n.2089G>T n.2043G>T | |
2 | g.25244194C>G | CA425182238 | DNMT3A | c.131G>C c.958G>C (n.958G>C) c.1143G>C (p.Arg381=) c.1812G>C (p.Arg604=) c.1245G>C (p.Arg415=) n.131G>C c.1368G>C (p.Arg456=) c.1665G>C (p.Arg555=) c.1647G>C (p.Arg549=) c.1356G>C (p.Arg452=) c.1284G>C (p.Arg428=) n.2150G>C n.2089G>C n.2043G>C | |
2 | g.25244194C>T | CA425182239 | DNMT3A | c.131G>A c.958G>A (n.958G>A) c.1143G>A (p.Arg381=) c.1812G>A (p.Arg604=) c.1245G>A (p.Arg415=) n.131G>A c.1368G>A (p.Arg456=) c.1665G>A (p.Arg555=) c.1647G>A (p.Arg549=) c.1356G>A (p.Arg452=) c.1284G>A (p.Arg428=) n.2150G>A n.2089G>A n.2043G>A | dbSNP gnomAD v4 |
2 | g.25244195del | CA2658168457 | DNMT3A | c.131del c.958del (n.958del) c.1143del (p.Leu382SerfsTer?) c.1812del (p.Leu605SerfsTer?) c.1245del (p.Leu416SerfsTer?) n.131del c.1368del (p.Leu457SerfsTer?) c.1665del (p.Leu556SerfsTer?) c.1647del (p.Leu550SerfsTer?) c.1356del (p.Leu453SerfsTer?) c.1284del (p.Leu429SerfsTer?) n.2150del n.2089del n.2043del | gnomAD v4 |
2 | g.25244195C>A | CA346071737 | DNMT3A | c.130G>T c.957G>T (n.957G>T) c.1142G>T (p.Arg381Leu) c.1811G>T (p.Arg604Leu) c.1244G>T (p.Arg415Leu) n.130G>T c.1367G>T (p.Arg456Leu) c.1664G>T (p.Arg555Leu) c.1646G>T (p.Arg549Leu) c.1355G>T (p.Arg452Leu) c.1283G>T (p.Arg428Leu) n.2149G>T n.2088G>T n.2042G>T | |
2 | g.25244195C= | CA1239262760 | DNMT3A | c.130G= c.957G= (n.957G=) c.1142G= (p.Arg381=) c.1811G= (p.Arg604=) c.1244G= (p.Arg415=) n.130G= c.1367G= (p.Arg456=) c.1664G= (p.Arg555=) c.1646G= (p.Arg549=) c.1355G= (p.Arg452=) c.1283G= (p.Arg428=) n.2149G= n.2088G= n.2042G= | |
2 | g.25244195C>G | CA346071738 | DNMT3A | c.130G>C c.957G>C (n.957G>C) c.1142G>C (p.Arg381Pro) c.1811G>C (p.Arg604Pro) c.1244G>C (p.Arg415Pro) n.130G>C c.1367G>C (p.Arg456Pro) c.1664G>C (p.Arg555Pro) c.1646G>C (p.Arg549Pro) c.1355G>C (p.Arg452Pro) c.1283G>C (p.Arg428Pro) n.2149G>C n.2088G>C n.2042G>C | gnomAD v4 |
2 | g.25244195C>T | CA1555868 | DNMT3A | c.130G>A c.957G>A (n.957G>A) c.1142G>A (p.Arg381Gln) c.1811G>A (p.Arg604Gln) c.1244G>A (p.Arg415Gln) n.130G>A c.1367G>A (p.Arg456Gln) c.1664G>A (p.Arg555Gln) c.1646G>A (p.Arg549Gln) c.1355G>A (p.Arg452Gln) c.1283G>A (p.Arg428Gln) n.2149G>A n.2088G>A n.2042G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244195_25244196delinsCG | CA1239262761 | DNMT3A | c.129_130delinsCG c.956_957delinsCG (n.956_957delinsCG) c.1141_1142delinsCG (p.Arg381=) c.1810_1811delinsCG (p.Arg604=) c.1243_1244delinsCG (p.Arg415=) n.129_130delinsCG c.1366_1367delinsCG (p.Arg456=) c.1663_1664delinsCG (p.Arg555=) c.1645_1646delinsCG (p.Arg549=) c.1354_1355delinsCG (p.Arg452=) c.1282_1283delinsCG (p.Arg428=) n.2148_2149delinsCG n.2087_2088delinsCG n.2041_2042delinsCG | |
2 | g.25244196G>A | CA346071739 | DNMT3A | c.129C>T c.956C>T (n.956C>T) c.1141C>T (p.Arg381Trp) c.1810C>T (p.Arg604Trp) c.1243C>T (p.Arg415Trp) n.129C>T c.1366C>T (p.Arg456Trp) c.1663C>T (p.Arg555Trp) c.1645C>T (p.Arg549Trp) c.1354C>T (p.Arg452Trp) c.1282C>T (p.Arg428Trp) n.2148C>T n.2087C>T n.2041C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244196G>C | CA346071740 | DNMT3A | c.129C>G c.956C>G (n.956C>G) c.1141C>G (p.Arg381Gly) c.1810C>G (p.Arg604Gly) c.1243C>G (p.Arg415Gly) n.129C>G c.1366C>G (p.Arg456Gly) c.1663C>G (p.Arg555Gly) c.1645C>G (p.Arg549Gly) c.1354C>G (p.Arg452Gly) c.1282C>G (p.Arg428Gly) n.2148C>G n.2087C>G n.2041C>G | |
2 | g.25244196G= | CA1239262766 | DNMT3A | c.129C= c.956C= (n.956C=) c.1141C= (p.Arg381=) c.1810C= (p.Arg604=) c.1243C= (p.Arg415=) n.129C= c.1366C= (p.Arg456=) c.1663C= (p.Arg555=) c.1645C= (p.Arg549=) c.1354C= (p.Arg452=) c.1282C= (p.Arg428=) n.2148C= n.2087C= n.2041C= | |
2 | g.25244196G>T | CA425182243 | DNMT3A | c.129C>A c.956C>A (n.956C>A) c.1141C>A (p.Arg381=) c.1810C>A (p.Arg604=) c.1243C>A (p.Arg415=) n.129C>A c.1366C>A (p.Arg456=) c.1663C>A (p.Arg555=) c.1645C>A (p.Arg549=) c.1354C>A (p.Arg452=) c.1282C>A (p.Arg428=) n.2148C>A n.2087C>A n.2041C>A | |
2 | g.25244198del | CA1555867 | DNMT3A | c.129del c.956del (n.956del) c.1141del (p.Arg381GlyfsTer?) c.1810del (p.Arg604GlyfsTer?) c.1243del (p.Arg415GlyfsTer?) n.129del c.1366del (p.Arg456GlyfsTer?) c.1663del (p.Arg555GlyfsTer?) c.1645del (p.Arg549GlyfsTer?) c.1354del (p.Arg452GlyfsTer?) c.1282del (p.Arg428GlyfsTer?) n.2148del n.2087del n.2041del | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.25244197G>A | CA425182244 | DNMT3A | c.128C>T c.955C>T (n.955C>T) c.1140C>T (p.Ser380=) c.1809C>T (p.Ser603=) c.1242C>T (p.Ser414=) n.128C>T c.1365C>T (p.Ser455=) c.1662C>T (p.Ser554=) c.1644C>T (p.Ser548=) c.1353C>T (p.Ser451=) c.1281C>T (p.Ser427=) n.2147C>T n.2086C>T n.2040C>T | dbSNP |
2 | g.25244197G>C | CA425182245 | DNMT3A | c.128C>G c.955C>G (n.955C>G) c.1140C>G (p.Ser380=) c.1809C>G (p.Ser603=) c.1242C>G (p.Ser414=) n.128C>G c.1365C>G (p.Ser455=) c.1662C>G (p.Ser554=) c.1644C>G (p.Ser548=) c.1353C>G (p.Ser451=) c.1281C>G (p.Ser427=) n.2147C>G n.2086C>G n.2040C>G | |
2 | g.25244197G>T | CA425182246 | DNMT3A | c.128C>A c.955C>A (n.955C>A) c.1140C>A (p.Ser380=) c.1809C>A (p.Ser603=) c.1242C>A (p.Ser414=) n.128C>A c.1365C>A (p.Ser455=) c.1662C>A (p.Ser554=) c.1644C>A (p.Ser548=) c.1353C>A (p.Ser451=) c.1281C>A (p.Ser427=) n.2147C>A n.2086C>A n.2040C>A | gnomAD v4 |
2 | g.25244198G>A | CA346071743 | DNMT3A | c.127C>T c.954C>T (n.954C>T) c.1139C>T (p.Ser380Phe) c.1808C>T (p.Ser603Phe) c.1241C>T (p.Ser414Phe) n.127C>T c.1364C>T (p.Ser455Phe) c.1661C>T (p.Ser554Phe) c.1643C>T (p.Ser548Phe) c.1352C>T (p.Ser451Phe) c.1280C>T (p.Ser427Phe) n.2146C>T n.2085C>T n.2039C>T | |
2 | g.25244198G>C | CA346071742 | DNMT3A | c.127C>G c.954C>G (n.954C>G) c.1139C>G (p.Ser380Cys) c.1808C>G (p.Ser603Cys) c.1241C>G (p.Ser414Cys) n.127C>G c.1364C>G (p.Ser455Cys) c.1661C>G (p.Ser554Cys) c.1643C>G (p.Ser548Cys) c.1352C>G (p.Ser451Cys) c.1280C>G (p.Ser427Cys) n.2146C>G n.2085C>G n.2039C>G | |
2 | g.25244198G>T | CA346071741 | DNMT3A | c.127C>A c.954C>A (n.954C>A) c.1139C>A (p.Ser380Tyr) c.1808C>A (p.Ser603Tyr) c.1241C>A (p.Ser414Tyr) n.127C>A c.1364C>A (p.Ser455Tyr) c.1661C>A (p.Ser554Tyr) c.1643C>A (p.Ser548Tyr) c.1352C>A (p.Ser451Tyr) c.1280C>A (p.Ser427Tyr) n.2146C>A n.2085C>A n.2039C>A | |
2 | g.25244199A>C | CA346071744 | DNMT3A | c.126T>G c.953T>G (n.953T>G) c.1138T>G (p.Ser380Ala) c.1807T>G (p.Ser603Ala) c.1240T>G (p.Ser414Ala) n.126T>G c.1363T>G (p.Ser455Ala) c.1660T>G (p.Ser554Ala) c.1642T>G (p.Ser548Ala) c.1351T>G (p.Ser451Ala) c.1279T>G (p.Ser427Ala) n.2145T>G n.2084T>G n.2038T>G | |
2 | g.25244199A>G | CA346071745 | DNMT3A | c.126T>C c.953T>C (n.953T>C) c.1138T>C (p.Ser380Pro) c.1807T>C (p.Ser603Pro) c.1240T>C (p.Ser414Pro) n.126T>C c.1363T>C (p.Ser455Pro) c.1660T>C (p.Ser554Pro) c.1642T>C (p.Ser548Pro) c.1351T>C (p.Ser451Pro) c.1279T>C (p.Ser427Pro) n.2145T>C n.2084T>C n.2038T>C | dbSNP |
2 | g.25244199A>T | CA346071746 | DNMT3A | c.126T>A c.953T>A (n.953T>A) c.1138T>A (p.Ser380Thr) c.1807T>A (p.Ser603Thr) c.1240T>A (p.Ser414Thr) n.126T>A c.1363T>A (p.Ser455Thr) c.1660T>A (p.Ser554Thr) c.1642T>A (p.Ser548Thr) c.1351T>A (p.Ser451Thr) c.1279T>A (p.Ser427Thr) n.2145T>A n.2084T>A n.2038T>A | |
2 | g.25244200G>A | CA425182252 | DNMT3A | c.125C>T c.952C>T (n.952C>T) c.1137C>T (p.Pro379=) c.1806C>T (p.Pro602=) c.1239C>T (p.Pro413=) n.125C>T c.1362C>T (p.Pro454=) c.1659C>T (p.Pro553=) c.1641C>T (p.Pro547=) c.1350C>T (p.Pro450=) c.1278C>T (p.Pro426=) n.2144C>T n.2083C>T n.2037C>T | dbSNP |
2 | g.25244200G>C | CA425182251 | DNMT3A | c.125C>G c.952C>G (n.952C>G) c.1137C>G (p.Pro379=) c.1806C>G (p.Pro602=) c.1239C>G (p.Pro413=) n.125C>G c.1362C>G (p.Pro454=) c.1659C>G (p.Pro553=) c.1641C>G (p.Pro547=) c.1350C>G (p.Pro450=) c.1278C>G (p.Pro426=) n.2144C>G n.2083C>G n.2037C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244200G= | CA1239262771 | DNMT3A | c.125C= c.952C= (n.952C=) c.1137C= (p.Pro379=) c.1806C= (p.Pro602=) c.1239C= (p.Pro413=) n.125C= c.1362C= (p.Pro454=) c.1659C= (p.Pro553=) c.1641C= (p.Pro547=) c.1350C= (p.Pro450=) c.1278C= (p.Pro426=) n.2144C= n.2083C= n.2037C= | |
2 | g.25244200G>T | CA425182250 | DNMT3A | c.125C>A c.952C>A (n.952C>A) c.1137C>A (p.Pro379=) c.1806C>A (p.Pro602=) c.1239C>A (p.Pro413=) n.125C>A c.1362C>A (p.Pro454=) c.1659C>A (p.Pro553=) c.1641C>A (p.Pro547=) c.1350C>A (p.Pro450=) c.1278C>A (p.Pro426=) n.2144C>A n.2083C>A n.2037C>A | |
2 | g.25244202del | CA2658168459 | DNMT3A | c.125del c.952del (n.952del) c.1137del (p.Ser380ProfsTer?) c.1806del (p.Ser603ProfsTer?) c.1239del (p.Ser414ProfsTer?) n.125del c.1362del (p.Ser455ProfsTer?) c.1659del (p.Ser554ProfsTer?) c.1641del (p.Ser548ProfsTer?) c.1350del (p.Ser451ProfsTer?) c.1278del (p.Ser427ProfsTer?) n.2144del n.2083del n.2037del | gnomAD v4 |
2 | g.25244201_25244202del | CA2658168458 | DNMT3A | c.124_125del c.951_952del (n.951_952del) c.1136_1137del (p.Pro379LeufsTer9) c.1805_1806del (p.Pro602LeufsTer9) c.1238_1239del (p.Pro413LeufsTer9) n.124_125del c.1361_1362del (p.Pro454LeufsTer9) c.1658_1659del (p.Pro553LeufsTer9) c.1640_1641del (p.Pro547LeufsTer9) c.1349_1350del (p.Pro450LeufsTer9) c.1277_1278del (p.Pro426LeufsTer9) n.2143_2144del n.2082_2083del n.2036_2037del | gnomAD v4 |
2 | g.25244200_25244203del | CA2658168462 | DNMT3A | c.122_125del c.949_952del (n.949_952del) c.1134_1137del (p.Trp378CysfsTer?) c.1803_1806del (p.Trp601CysfsTer?) c.1236_1239del (p.Trp412CysfsTer?) n.122_125del c.1359_1362del (p.Trp453CysfsTer?) c.1656_1659del (p.Trp552CysfsTer?) c.1638_1641del (p.Trp546CysfsTer?) c.1347_1350del (p.Trp449CysfsTer?) c.1275_1278del (p.Trp425CysfsTer?) n.2141_2144del n.2080_2083del n.2034_2037del | gnomAD v4 |
2 | g.25244200_25244206del | CA2658168463 | DNMT3A | c.119_125del c.946_952del (n.946_952del) c.1131_1137del (p.Trp378ProfsTer?) c.1800_1806del (p.Trp601ProfsTer?) c.1233_1239del (p.Trp412ProfsTer?) n.119_125del c.1356_1362del (p.Trp453ProfsTer?) c.1653_1659del (p.Trp552ProfsTer?) c.1635_1641del (p.Trp546ProfsTer?) c.1344_1350del (p.Trp449ProfsTer?) c.1272_1278del (p.Trp425ProfsTer?) n.2138_2144del n.2077_2083del n.2031_2037del | gnomAD v4 |
2 | g.25244201G>A | CA346071747 | DNMT3A | c.124C>T c.951C>T (n.951C>T) c.1136C>T (p.Pro379Leu) c.1805C>T (p.Pro602Leu) c.1238C>T (p.Pro413Leu) n.124C>T c.1361C>T (p.Pro454Leu) c.1658C>T (p.Pro553Leu) c.1640C>T (p.Pro547Leu) c.1349C>T (p.Pro450Leu) c.1277C>T (p.Pro426Leu) n.2143C>T n.2082C>T n.2036C>T | |
2 | g.25244201G>C | CA346071748 | DNMT3A | c.124C>G c.951C>G (n.951C>G) c.1136C>G (p.Pro379Arg) c.1805C>G (p.Pro602Arg) c.1238C>G (p.Pro413Arg) n.124C>G c.1361C>G (p.Pro454Arg) c.1658C>G (p.Pro553Arg) c.1640C>G (p.Pro547Arg) c.1349C>G (p.Pro450Arg) c.1277C>G (p.Pro426Arg) n.2143C>G n.2082C>G n.2036C>G | |
2 | g.25244201G>T | CA346071749 | DNMT3A | c.124C>A c.951C>A (n.951C>A) c.1136C>A (p.Pro379His) c.1805C>A (p.Pro602His) c.1238C>A (p.Pro413His) n.124C>A c.1361C>A (p.Pro454His) c.1658C>A (p.Pro553His) c.1640C>A (p.Pro547His) c.1349C>A (p.Pro450His) c.1277C>A (p.Pro426His) n.2143C>A n.2082C>A n.2036C>A | |
2 | g.25244202G>A | CA346071750 | DNMT3A | c.123C>T c.950C>T (n.950C>T) c.1135C>T (p.Pro379Ser) c.1804C>T (p.Pro602Ser) c.1237C>T (p.Pro413Ser) n.123C>T c.1360C>T (p.Pro454Ser) c.1657C>T (p.Pro553Ser) c.1639C>T (p.Pro547Ser) c.1348C>T (p.Pro450Ser) c.1276C>T (p.Pro426Ser) n.2142C>T n.2081C>T n.2035C>T | dbSNP |
2 | g.25244202G>C | CA346071752 | DNMT3A | c.123C>G c.950C>G (n.950C>G) c.1135C>G (p.Pro379Ala) c.1804C>G (p.Pro602Ala) c.1237C>G (p.Pro413Ala) n.123C>G c.1360C>G (p.Pro454Ala) c.1657C>G (p.Pro553Ala) c.1639C>G (p.Pro547Ala) c.1348C>G (p.Pro450Ala) c.1276C>G (p.Pro426Ala) n.2142C>G n.2081C>G n.2035C>G | |
2 | g.25244202G>T | CA346071751 | DNMT3A | c.123C>A c.950C>A (n.950C>A) c.1135C>A (p.Pro379Thr) c.1804C>A (p.Pro602Thr) c.1237C>A (p.Pro413Thr) n.123C>A c.1360C>A (p.Pro454Thr) c.1657C>A (p.Pro553Thr) c.1639C>A (p.Pro547Thr) c.1348C>A (p.Pro450Thr) c.1276C>A (p.Pro426Thr) n.2142C>A n.2081C>A n.2035C>A | |
2 | g.25244202_25244208del | CA2699060369 | DNMT3A | c.117_123del c.944_950del (n.944_950del) c.1129_1135del (p.Asp377ProfsTer?) c.1798_1804del (p.Asp600ProfsTer?) c.1231_1237del (p.Asp411ProfsTer?) n.117_123del c.1354_1360del (p.Asp452ProfsTer?) c.1651_1657del (p.Asp551ProfsTer?) c.1633_1639del (p.Asp545ProfsTer?) c.1342_1348del (p.Asp448ProfsTer?) c.1270_1276del (p.Asp424ProfsTer?) n.2136_2142del n.2075_2081del n.2029_2035del | dbSNP |
2 | g.25244203C>A | CA346071753 | DNMT3A | c.122G>T c.949G>T (n.949G>T) c.1134G>T (p.Trp378Cys) c.1803G>T (p.Trp601Cys) c.1236G>T (p.Trp412Cys) n.122G>T c.1359G>T (p.Trp453Cys) c.1656G>T (p.Trp552Cys) c.1638G>T (p.Trp546Cys) c.1347G>T (p.Trp449Cys) c.1275G>T (p.Trp425Cys) n.2141G>T n.2080G>T n.2034G>T | |
2 | g.25244203C= | CA1239262778 | DNMT3A | c.122G= c.949G= (n.949G=) c.1134G= (p.Trp378=) c.1803G= (p.Trp601=) c.1236G= (p.Trp412=) n.122G= c.1359G= (p.Trp453=) c.1656G= (p.Trp552=) c.1638G= (p.Trp546=) c.1347G= (p.Trp449=) c.1275G= (p.Trp425=) n.2141G= n.2080G= n.2034G= | |
2 | g.25244203C>G | CA346071754 | DNMT3A | c.122G>C c.949G>C (n.949G>C) c.1134G>C (p.Trp378Cys) c.1803G>C (p.Trp601Cys) c.1236G>C (p.Trp412Cys) n.122G>C c.1359G>C (p.Trp453Cys) c.1656G>C (p.Trp552Cys) c.1638G>C (p.Trp546Cys) c.1347G>C (p.Trp449Cys) c.1275G>C (p.Trp425Cys) n.2141G>C n.2080G>C n.2034G>C | |
2 | g.25244203C>T | CA1555869 | DNMT3A | c.122G>A c.949G>A (n.949G>A) c.1134G>A (p.Trp378Ter) c.1803G>A (p.Trp601Ter) c.1236G>A (p.Trp412Ter) n.122G>A c.1359G>A (p.Trp453Ter) c.1656G>A (p.Trp552Ter) c.1638G>A (p.Trp546Ter) c.1347G>A (p.Trp449Ter) c.1275G>A (p.Trp425Ter) n.2141G>A n.2080G>A n.2034G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244205_25244209del | CA2658168467 | DNMT3A | c.118_122del c.945_949del (n.945_949del) c.1130_1134del (p.Asp377AlafsTer10) c.1799_1803del (p.Asp600AlafsTer10) c.1232_1236del (p.Asp411AlafsTer10) n.118_122del c.1355_1359del (p.Asp452AlafsTer10) c.1652_1656del (p.Asp551AlafsTer10) c.1634_1638del (p.Asp545AlafsTer10) c.1343_1347del (p.Asp448AlafsTer10) c.1271_1275del (p.Asp424AlafsTer10) n.2137_2141del n.2076_2080del n.2030_2034del | gnomAD v4 |
2 | g.25244204C>A | CA346071755 | DNMT3A | c.121G>T c.948G>T (n.948G>T) c.1133G>T (p.Trp378Leu) c.1802G>T (p.Trp601Leu) c.1235G>T (p.Trp412Leu) n.121G>T c.1358G>T (p.Trp453Leu) c.1655G>T (p.Trp552Leu) c.1637G>T (p.Trp546Leu) c.1346G>T (p.Trp449Leu) c.1274G>T (p.Trp425Leu) n.2140G>T n.2079G>T n.2033G>T | |
2 | g.25244204C= | CA1239262782 | DNMT3A | c.121G= c.948G= (n.948G=) c.1133G= (p.Trp378=) c.1802G= (p.Trp601=) c.1235G= (p.Trp412=) n.121G= c.1358G= (p.Trp453=) c.1655G= (p.Trp552=) c.1637G= (p.Trp546=) c.1346G= (p.Trp449=) c.1274G= (p.Trp425=) n.2140G= n.2079G= n.2033G= | |
2 | g.25244204C>G | CA346071756 | DNMT3A | c.121G>C c.948G>C (n.948G>C) c.1133G>C (p.Trp378Ser) c.1802G>C (p.Trp601Ser) c.1235G>C (p.Trp412Ser) n.121G>C c.1358G>C (p.Trp453Ser) c.1655G>C (p.Trp552Ser) c.1637G>C (p.Trp546Ser) c.1346G>C (p.Trp449Ser) c.1274G>C (p.Trp425Ser) n.2140G>C n.2079G>C n.2033G>C | |
2 | g.25244204C>T | CA43703281 | DNMT3A | c.121G>A c.948G>A (n.948G>A) c.1133G>A (p.Trp378Ter) c.1802G>A (p.Trp601Ter) c.1235G>A (p.Trp412Ter) n.121G>A c.1358G>A (p.Trp453Ter) c.1655G>A (p.Trp552Ter) c.1637G>A (p.Trp546Ter) c.1346G>A (p.Trp449Ter) c.1274G>A (p.Trp425Ter) n.2140G>A n.2079G>A n.2033G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244205A>C | CA346071757 | DNMT3A | c.120T>G c.947T>G (n.947T>G) c.1132T>G (p.Trp378Gly) c.1801T>G (p.Trp601Gly) c.1234T>G (p.Trp412Gly) n.120T>G c.1357T>G (p.Trp453Gly) c.1654T>G (p.Trp552Gly) c.1636T>G (p.Trp546Gly) c.1345T>G (p.Trp449Gly) c.1273T>G (p.Trp425Gly) n.2139T>G n.2078T>G n.2032T>G | |
2 | g.25244205A>G | CA346071758 | DNMT3A | c.120T>C c.947T>C (n.947T>C) c.1132T>C (p.Trp378Arg) c.1801T>C (p.Trp601Arg) c.1234T>C (p.Trp412Arg) n.120T>C c.1357T>C (p.Trp453Arg) c.1654T>C (p.Trp552Arg) c.1636T>C (p.Trp546Arg) c.1345T>C (p.Trp449Arg) c.1273T>C (p.Trp425Arg) n.2139T>C n.2078T>C n.2032T>C | |
2 | g.25244205A>T | CA346071759 | DNMT3A | c.120T>A c.947T>A (n.947T>A) c.1132T>A (p.Trp378Arg) c.1801T>A (p.Trp601Arg) c.1234T>A (p.Trp412Arg) n.120T>A c.1357T>A (p.Trp453Arg) c.1654T>A (p.Trp552Arg) c.1636T>A (p.Trp546Arg) c.1345T>A (p.Trp449Arg) c.1273T>A (p.Trp425Arg) n.2139T>A n.2078T>A n.2032T>A | |
2 | g.25244206G>A | CA425182257 | DNMT3A | c.119C>T c.946C>T (n.946C>T) c.1131C>T (p.Asp377=) c.1800C>T (p.Asp600=) c.1233C>T (p.Asp411=) n.119C>T c.1356C>T (p.Asp452=) c.1653C>T (p.Asp551=) c.1635C>T (p.Asp545=) c.1344C>T (p.Asp448=) c.1272C>T (p.Asp424=) n.2138C>T n.2077C>T n.2031C>T | dbSNP |
2 | g.25244206G>C | CA346071760 | DNMT3A | c.119C>G c.946C>G (n.946C>G) c.1131C>G (p.Asp377Glu) c.1800C>G (p.Asp600Glu) c.1233C>G (p.Asp411Glu) n.119C>G c.1356C>G (p.Asp452Glu) c.1653C>G (p.Asp551Glu) c.1635C>G (p.Asp545Glu) c.1344C>G (p.Asp448Glu) c.1272C>G (p.Asp424Glu) n.2138C>G n.2077C>G n.2031C>G | dbSNP |
2 | g.25244206G>T | CA346071761 | DNMT3A | c.119C>A c.946C>A (n.946C>A) c.1131C>A (p.Asp377Glu) c.1800C>A (p.Asp600Glu) c.1233C>A (p.Asp411Glu) n.119C>A c.1356C>A (p.Asp452Glu) c.1653C>A (p.Asp551Glu) c.1635C>A (p.Asp545Glu) c.1344C>A (p.Asp448Glu) c.1272C>A (p.Asp424Glu) n.2138C>A n.2077C>A n.2031C>A | |
2 | g.25244207T>A | CA346071762 | DNMT3A | c.118A>T c.945A>T (n.945A>T) c.1130A>T (p.Asp377Val) c.1799A>T (p.Asp600Val) c.1232A>T (p.Asp411Val) n.118A>T c.1355A>T (p.Asp452Val) c.1652A>T (p.Asp551Val) c.1634A>T (p.Asp545Val) c.1343A>T (p.Asp448Val) c.1271A>T (p.Asp424Val) n.2137A>T n.2076A>T n.2030A>T | |
2 | g.25244207T>C | CA346071764 | DNMT3A | c.118A>G c.945A>G (n.945A>G) c.1130A>G (p.Asp377Gly) c.1799A>G (p.Asp600Gly) c.1232A>G (p.Asp411Gly) n.118A>G c.1355A>G (p.Asp452Gly) c.1652A>G (p.Asp551Gly) c.1634A>G (p.Asp545Gly) c.1343A>G (p.Asp448Gly) c.1271A>G (p.Asp424Gly) n.2137A>G n.2076A>G n.2030A>G | dbSNP |
2 | g.25244207T>G | CA346071763 | DNMT3A | c.118A>C c.945A>C (n.945A>C) c.1130A>C (p.Asp377Ala) c.1799A>C (p.Asp600Ala) c.1232A>C (p.Asp411Ala) n.118A>C c.1355A>C (p.Asp452Ala) c.1652A>C (p.Asp551Ala) c.1634A>C (p.Asp545Ala) c.1343A>C (p.Asp448Ala) c.1271A>C (p.Asp424Ala) n.2137A>C n.2076A>C n.2030A>C | |
2 | g.25244209_25244213dup | CA2658168474 | DNMT3A | c.114_118dup c.941_945dup (n.941_945dup) c.1126_1130dup (p.Asp377GlufsTer?) c.1795_1799dup (p.Asp600GlufsTer?) c.1228_1232dup (p.Asp411GlufsTer?) n.114_118dup c.1351_1355dup (p.Asp452GlufsTer?) c.1648_1652dup (p.Asp551GlufsTer?) c.1630_1634dup (p.Asp545GlufsTer?) c.1339_1343dup (p.Asp448GlufsTer?) c.1267_1271dup (p.Asp424GlufsTer?) n.2133_2137dup n.2072_2076dup n.2026_2030dup | gnomAD v4 |
2 | g.25244208C>A | CA346071765 | DNMT3A | c.117G>T c.944G>T (n.944G>T) c.1129G>T (p.Asp377Tyr) c.1798G>T (p.Asp600Tyr) c.1231G>T (p.Asp411Tyr) n.117G>T c.1354G>T (p.Asp452Tyr) c.1651G>T (p.Asp551Tyr) c.1633G>T (p.Asp545Tyr) c.1342G>T (p.Asp448Tyr) c.1270G>T (p.Asp424Tyr) n.2136G>T n.2075G>T n.2029G>T | |
2 | g.25244208C= | CA1239262787 | DNMT3A | c.117G= c.944G= (n.944G=) c.1129G= (p.Asp377=) c.1798G= (p.Asp600=) c.1231G= (p.Asp411=) n.117G= c.1354G= (p.Asp452=) c.1651G= (p.Asp551=) c.1633G= (p.Asp545=) c.1342G= (p.Asp448=) c.1270G= (p.Asp424=) n.2136G= n.2075G= n.2029G= | |
2 | g.25244208C>G | CA346071766 | DNMT3A | c.117G>C c.944G>C (n.944G>C) c.1129G>C (p.Asp377His) c.1798G>C (p.Asp600His) c.1231G>C (p.Asp411His) n.117G>C c.1354G>C (p.Asp452His) c.1651G>C (p.Asp551His) c.1633G>C (p.Asp545His) c.1342G>C (p.Asp448His) c.1270G>C (p.Asp424His) n.2136G>C n.2075G>C n.2029G>C | |
2 | g.25244208C>T | CA1555870 | DNMT3A | c.117G>A c.944G>A (n.944G>A) c.1129G>A (p.Asp377Asn) c.1798G>A (p.Asp600Asn) c.1231G>A (p.Asp411Asn) n.117G>A c.1354G>A (p.Asp452Asn) c.1651G>A (p.Asp551Asn) c.1633G>A (p.Asp545Asn) c.1342G>A (p.Asp448Asn) c.1270G>A (p.Asp424Asn) n.2136G>A n.2075G>A n.2029G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244208_25244211del | CA2658168479 | DNMT3A | c.114_117del c.941_944del (n.941_944del) c.1126_1129del (p.Glu376ThrfsTer?) c.1795_1798del (p.Glu599ThrfsTer?) c.1228_1231del (p.Glu410ThrfsTer?) n.114_117del c.1351_1354del (p.Glu451ThrfsTer?) c.1648_1651del (p.Glu550ThrfsTer?) c.1630_1633del (p.Glu544ThrfsTer?) c.1339_1342del (p.Glu447ThrfsTer?) c.1267_1270del (p.Glu423ThrfsTer?) n.2133_2136del n.2072_2075del n.2026_2029del | gnomAD v4 |
2 | g.25244209C>A | CA1555871 | DNMT3A | c.116G>T c.943G>T (n.943G>T) c.1128G>T (p.Glu376Asp) c.1797G>T (p.Glu599Asp) c.1230G>T (p.Glu410Asp) n.116G>T c.1353G>T (p.Glu451Asp) c.1650G>T (p.Glu550Asp) c.1632G>T (p.Glu544Asp) c.1341G>T (p.Glu447Asp) c.1269G>T (p.Glu423Asp) n.2135G>T n.2074G>T n.2028G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244209C= | CA1239262790 | DNMT3A | c.116G= c.943G= (n.943G=) c.1128G= (p.Glu376=) c.1797G= (p.Glu599=) c.1230G= (p.Glu410=) n.116G= c.1353G= (p.Glu451=) c.1650G= (p.Glu550=) c.1632G= (p.Glu544=) c.1341G= (p.Glu447=) c.1269G= (p.Glu423=) n.2135G= n.2074G= n.2028G= | |
2 | g.25244209C>G | CA346071767 | DNMT3A | c.116G>C c.943G>C (n.943G>C) c.1128G>C (p.Glu376Asp) c.1797G>C (p.Glu599Asp) c.1230G>C (p.Glu410Asp) n.116G>C c.1353G>C (p.Glu451Asp) c.1650G>C (p.Glu550Asp) c.1632G>C (p.Glu544Asp) c.1341G>C (p.Glu447Asp) c.1269G>C (p.Glu423Asp) n.2135G>C n.2074G>C n.2028G>C | |
2 | g.25244209C>T | CA425182261 | DNMT3A | c.116G>A c.943G>A (n.943G>A) c.1128G>A (p.Glu376=) c.1797G>A (p.Glu599=) c.1230G>A (p.Glu410=) n.116G>A c.1353G>A (p.Glu451=) c.1650G>A (p.Glu550=) c.1632G>A (p.Glu544=) c.1341G>A (p.Glu447=) c.1269G>A (p.Glu423=) n.2135G>A n.2074G>A n.2028G>A | dbSNP |
2 | g.25244210del | CA2576694284 | DNMT3A | c.115del c.942del (n.942del) c.1127del (p.Glu376GlyfsTer?) c.1796del (p.Glu599GlyfsTer?) c.1229del (p.Glu410GlyfsTer?) n.115del c.1352del (p.Glu451GlyfsTer?) c.1649del (p.Glu550GlyfsTer?) c.1631del (p.Glu544GlyfsTer?) c.1340del (p.Glu447GlyfsTer?) c.1268del (p.Glu423GlyfsTer?) n.2134del n.2073del n.2027del | |
2 | g.25244210T>A | CA346071768 | DNMT3A | c.115A>T c.942A>T (n.942A>T) c.1127A>T (p.Glu376Val) c.1796A>T (p.Glu599Val) c.1229A>T (p.Glu410Val) n.115A>T c.1352A>T (p.Glu451Val) c.1649A>T (p.Glu550Val) c.1631A>T (p.Glu544Val) c.1340A>T (p.Glu447Val) c.1268A>T (p.Glu423Val) n.2134A>T n.2073A>T n.2027A>T | |
2 | g.25244210T>C | CA346071769 | DNMT3A | c.115A>G c.942A>G (n.942A>G) c.1127A>G (p.Glu376Gly) c.1796A>G (p.Glu599Gly) c.1229A>G (p.Glu410Gly) n.115A>G c.1352A>G (p.Glu451Gly) c.1649A>G (p.Glu550Gly) c.1631A>G (p.Glu544Gly) c.1340A>G (p.Glu447Gly) c.1268A>G (p.Glu423Gly) n.2134A>G n.2073A>G n.2027A>G | dbSNP |
2 | g.25244210T>G | CA346071770 | DNMT3A | c.115A>C c.942A>C (n.942A>C) c.1127A>C (p.Glu376Ala) c.1796A>C (p.Glu599Ala) c.1229A>C (p.Glu410Ala) n.115A>C c.1352A>C (p.Glu451Ala) c.1649A>C (p.Glu550Ala) c.1631A>C (p.Glu544Ala) c.1340A>C (p.Glu447Ala) c.1268A>C (p.Glu423Ala) n.2134A>C n.2073A>C n.2027A>C | |
2 | g.25244211C>A | CA346071771 | DNMT3A | c.114G>T c.941G>T (n.941G>T) c.1126G>T (p.Glu376Ter) c.1795G>T (p.Glu599Ter) c.1228G>T (p.Glu410Ter) n.114G>T c.1351G>T (p.Glu451Ter) c.1648G>T (p.Glu550Ter) c.1630G>T (p.Glu544Ter) c.1339G>T (p.Glu447Ter) c.1267G>T (p.Glu423Ter) n.2133G>T n.2072G>T n.2026G>T | gnomAD v4 |
2 | g.25244211C>G | CA346071772 | DNMT3A | c.114G>C c.941G>C (n.941G>C) c.1126G>C (p.Glu376Gln) c.1795G>C (p.Glu599Gln) c.1228G>C (p.Glu410Gln) n.114G>C c.1351G>C (p.Glu451Gln) c.1648G>C (p.Glu550Gln) c.1630G>C (p.Glu544Gln) c.1339G>C (p.Glu447Gln) c.1267G>C (p.Glu423Gln) n.2133G>C n.2072G>C n.2026G>C | |
2 | g.25244211C>T | CA346071773 | DNMT3A | c.114G>A c.941G>A (n.941G>A) c.1126G>A (p.Glu376Lys) c.1795G>A (p.Glu599Lys) c.1228G>A (p.Glu410Lys) n.114G>A c.1351G>A (p.Glu451Lys) c.1648G>A (p.Glu550Lys) c.1630G>A (p.Glu544Lys) c.1339G>A (p.Glu447Lys) c.1267G>A (p.Glu423Lys) n.2133G>A n.2072G>A n.2026G>A | |
2 | g.25244212del | CA2739317457 | DNMT3A | c.113del c.940del (n.940del) c.1125del (p.Glu376ArgfsTer?) c.1794del (p.Glu599ArgfsTer?) c.1227del (p.Glu410ArgfsTer?) n.113del c.1350del (p.Glu451ArgfsTer?) c.1647del (p.Glu550ArgfsTer?) c.1629del (p.Glu544ArgfsTer?) c.1338del (p.Glu447ArgfsTer?) c.1266del (p.Glu423ArgfsTer?) n.2132del n.2071del n.2025del | |
2 | g.25244212T>A | CA425182262 | DNMT3A | c.113A>T c.940A>T (n.940A>T) c.1125A>T (p.Arg375=) c.1794A>T (p.Arg598=) c.1227A>T (p.Arg409=) n.113A>T c.1350A>T (p.Arg450=) c.1647A>T (p.Arg549=) c.1629A>T (p.Arg543=) c.1338A>T (p.Arg446=) c.1266A>T (p.Arg422=) n.2132A>T n.2071A>T n.2025A>T | |
2 | g.25244212T>C | CA425182263 | DNMT3A | c.113A>G c.940A>G (n.940A>G) c.1125A>G (p.Arg375=) c.1794A>G (p.Arg598=) c.1227A>G (p.Arg409=) n.113A>G c.1350A>G (p.Arg450=) c.1647A>G (p.Arg549=) c.1629A>G (p.Arg543=) c.1338A>G (p.Arg446=) c.1266A>G (p.Arg422=) n.2132A>G n.2071A>G n.2025A>G | |
2 | g.25244212T>G | CA425182264 | DNMT3A | c.113A>C c.940A>C (n.940A>C) c.1125A>C (p.Arg375=) c.1794A>C (p.Arg598=) c.1227A>C (p.Arg409=) n.113A>C c.1350A>C (p.Arg450=) c.1647A>C (p.Arg549=) c.1629A>C (p.Arg543=) c.1338A>C (p.Arg446=) c.1266A>C (p.Arg422=) n.2132A>C n.2071A>C n.2025A>C | |
2 | g.25244212_25244213delinsTC | CA1239262795 | DNMT3A | c.112_113delinsGA c.939_940delinsGA (n.939_940delinsGA) c.1124_1125delinsGA (p.Arg375=) c.1793_1794delinsGA (p.Arg598=) c.1226_1227delinsGA (p.Arg409=) n.112_113delinsGA c.1349_1350delinsGA (p.Arg450=) c.1646_1647delinsGA (p.Arg549=) c.1628_1629delinsGA (p.Arg543=) c.1337_1338delinsGA (p.Arg446=) c.1265_1266delinsGA (p.Arg422=) n.2131_2132delinsGA n.2070_2071delinsGA n.2024_2025delinsGA | |
2 | g.25244213del | CA43703299 | DNMT3A | c.112del c.939del (n.939del) c.1124del (p.Arg375GlnfsTer?) c.1793del (p.Arg598GlnfsTer?) c.1226del (p.Arg409GlnfsTer?) n.112del c.1349del (p.Arg450GlnfsTer?) c.1646del (p.Arg549GlnfsTer?) c.1628del (p.Arg543GlnfsTer?) c.1337del (p.Arg446GlnfsTer?) c.1265del (p.Arg422GlnfsTer?) n.2131del n.2070del n.2024del | dbSNP |
2 | g.25244213C>A | CA346071774 | DNMT3A | c.112G>T c.939G>T (n.939G>T) c.1124G>T (p.Arg375Leu) c.1793G>T (p.Arg598Leu) c.1226G>T (p.Arg409Leu) n.112G>T c.1349G>T (p.Arg450Leu) c.1646G>T (p.Arg549Leu) c.1628G>T (p.Arg543Leu) c.1337G>T (p.Arg446Leu) c.1265G>T (p.Arg422Leu) n.2131G>T n.2070G>T n.2024G>T | dbSNP |
2 | g.25244213C= | CA1239262800 | DNMT3A | c.112G= c.939G= (n.939G=) c.1124G= (p.Arg375=) c.1793G= (p.Arg598=) c.1226G= (p.Arg409=) n.112G= c.1349G= (p.Arg450=) c.1646G= (p.Arg549=) c.1628G= (p.Arg543=) c.1337G= (p.Arg446=) c.1265G= (p.Arg422=) n.2131G= n.2070G= n.2024G= | |
2 | g.25244213C>G | CA346071775 | DNMT3A | c.112G>C c.939G>C (n.939G>C) c.1124G>C (p.Arg375Pro) c.1793G>C (p.Arg598Pro) c.1226G>C (p.Arg409Pro) n.112G>C c.1349G>C (p.Arg450Pro) c.1646G>C (p.Arg549Pro) c.1628G>C (p.Arg543Pro) c.1337G>C (p.Arg446Pro) c.1265G>C (p.Arg422Pro) n.2131G>C n.2070G>C n.2024G>C | |
2 | g.25244213C>T | CA1555872 | DNMT3A | c.112G>A c.939G>A (n.939G>A) c.1124G>A (p.Arg375Gln) c.1793G>A (p.Arg598Gln) c.1226G>A (p.Arg409Gln) n.112G>A c.1349G>A (p.Arg450Gln) c.1646G>A (p.Arg549Gln) c.1628G>A (p.Arg543Gln) c.1337G>A (p.Arg446Gln) c.1265G>A (p.Arg422Gln) n.2131G>A n.2070G>A n.2024G>A | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244213dup | CA2658168493 | DNMT3A | c.112dup c.939dup (n.939dup) c.1124dup (p.Glu376ArgfsTer13) c.1793dup (p.Glu599ArgfsTer13) c.1226dup (p.Glu410ArgfsTer13) n.112dup c.1349dup (p.Glu451ArgfsTer13) c.1646dup (p.Glu550ArgfsTer13) c.1628dup (p.Glu544ArgfsTer13) c.1337dup (p.Glu447ArgfsTer13) c.1265dup (p.Glu423ArgfsTer13) n.2131dup n.2070dup n.2024dup | gnomAD v4 |
2 | g.25244214G>A | CA1555873 | DNMT3A | c.111C>T c.938C>T (n.938C>T) c.1123C>T (p.Arg375Ter) c.1792C>T (p.Arg598Ter) c.1225C>T (p.Arg409Ter) n.111C>T c.1348C>T (p.Arg450Ter) c.1645C>T (p.Arg549Ter) c.1627C>T (p.Arg543Ter) c.1336C>T (p.Arg446Ter) c.1264C>T (p.Arg422Ter) n.2130C>T n.2069C>T n.2023C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.25244214G>C | CA346071776 | DNMT3A | c.111C>G c.938C>G (n.938C>G) c.1123C>G (p.Arg375Gly) c.1792C>G (p.Arg598Gly) c.1225C>G (p.Arg409Gly) n.111C>G c.1348C>G (p.Arg450Gly) c.1645C>G (p.Arg549Gly) c.1627C>G (p.Arg543Gly) c.1336C>G (p.Arg446Gly) c.1264C>G (p.Arg422Gly) n.2130C>G n.2069C>G n.2023C>G | dbSNP gnomAD v4 |
2 | g.25244214G= | CA1239262805 | DNMT3A | c.111C= c.938C= (n.938C=) c.1123C= (p.Arg375=) c.1792C= (p.Arg598=) c.1225C= (p.Arg409=) n.111C= c.1348C= (p.Arg450=) c.1645C= (p.Arg549=) c.1627C= (p.Arg543=) c.1336C= (p.Arg446=) c.1264C= (p.Arg422=) n.2130C= n.2069C= n.2023C= | |
2 | g.25244214G>T | CA425182265 | DNMT3A | c.111C>A c.938C>A (n.938C>A) c.1123C>A (p.Arg375=) c.1792C>A (p.Arg598=) c.1225C>A (p.Arg409=) n.111C>A c.1348C>A (p.Arg450=) c.1645C>A (p.Arg549=) c.1627C>A (p.Arg543=) c.1336C>A (p.Arg446=) c.1264C>A (p.Arg422=) n.2130C>A n.2069C>A n.2023C>A | dbSNP |
2 | g.25244214dup | CA2697547836 | DNMT3A | c.111dup c.938dup (n.938dup) c.1123dup (p.Arg375ProfsTer14) c.1792dup (p.Arg598ProfsTer14) c.1225dup (p.Arg409ProfsTer14) n.111dup c.1348dup (p.Arg450ProfsTer14) c.1645dup (p.Arg549ProfsTer14) c.1627dup (p.Arg543ProfsTer14) c.1336dup (p.Arg446ProfsTer14) c.1264dup (p.Arg422ProfsTer14) n.2130dup n.2069dup n.2023dup | ClinVar |
2 | g.25244215_25244254dup | CA2658168498 | DNMT3A | c.72_111dup c.899_938dup (n.899_938dup) c.1084_1123dup (p.Arg375HisfsTer27) c.1753_1792dup (p.Arg598HisfsTer27) c.1186_1225dup (p.Arg409HisfsTer27) n.72_111dup c.1309_1348dup (p.Arg450HisfsTer27) c.1606_1645dup (p.Arg549HisfsTer27) c.1588_1627dup (p.Arg543HisfsTer27) c.1297_1336dup (p.Arg446HisfsTer27) c.1225_1264dup (p.Arg422HisfsTer27) n.2091_2130dup n.2030_2069dup n.1984_2023dup | gnomAD v4 |
2 | g.25244215C>A | CA425182266 | DNMT3A | c.110G>T c.937G>T (n.937G>T) c.1122G>T (p.Arg374=) c.1791G>T (p.Arg597=) c.1224G>T (p.Arg408=) n.110G>T c.1347G>T (p.Arg449=) c.1644G>T (p.Arg548=) c.1626G>T (p.Arg542=) c.1335G>T (p.Arg445=) c.1263G>T (p.Arg421=) n.2129G>T n.2068G>T n.2022G>T | gnomAD v4 |
2 | g.25244215C= | CA1239262809 | DNMT3A | c.110G= c.937G= (n.937G=) c.1122G= (p.Arg374=) c.1791G= (p.Arg597=) c.1224G= (p.Arg408=) n.110G= c.1347G= (p.Arg449=) c.1644G= (p.Arg548=) c.1626G= (p.Arg542=) c.1335G= (p.Arg445=) c.1263G= (p.Arg421=) n.2129G= n.2068G= n.2022G= | |
2 | g.25244215C>G | CA425182268 | DNMT3A | c.110G>C c.937G>C (n.937G>C) c.1122G>C (p.Arg374=) c.1791G>C (p.Arg597=) c.1224G>C (p.Arg408=) n.110G>C c.1347G>C (p.Arg449=) c.1644G>C (p.Arg548=) c.1626G>C (p.Arg542=) c.1335G>C (p.Arg445=) c.1263G>C (p.Arg421=) n.2129G>C n.2068G>C n.2022G>C | |
2 | g.25244215C>T | CA425182269 | DNMT3A | c.110G>A c.937G>A (n.937G>A) c.1122G>A (p.Arg374=) c.1791G>A (p.Arg597=) c.1224G>A (p.Arg408=) n.110G>A c.1347G>A (p.Arg449=) c.1644G>A (p.Arg548=) c.1626G>A (p.Arg542=) c.1335G>A (p.Arg445=) c.1263G>A (p.Arg421=) n.2129G>A n.2068G>A n.2022G>A | dbSNP |
2 | g.25244216del | CA2573050554 | DNMT3A | c.110del c.937del (n.937del) c.1122del (p.Arg375GlufsTer?) c.1791del (p.Arg598GlufsTer?) c.1224del (p.Arg409GlufsTer?) n.110del c.1347del (p.Arg450GlufsTer?) c.1644del (p.Arg549GlufsTer?) c.1626del (p.Arg543GlufsTer?) c.1335del (p.Arg446GlufsTer?) c.1263del (p.Arg422GlufsTer?) n.2129del n.2068del n.2022del | ClinVar dbSNP |
2 | g.25244216C>A | CA346071777 | DNMT3A | c.109G>T c.936G>T (n.936G>T) c.1121G>T (p.Arg374Leu) c.1790G>T (p.Arg597Leu) c.1223G>T (p.Arg408Leu) n.109G>T c.1346G>T (p.Arg449Leu) c.1643G>T (p.Arg548Leu) c.1625G>T (p.Arg542Leu) c.1334G>T (p.Arg445Leu) c.1262G>T (p.Arg421Leu) n.2128G>T n.2067G>T n.2021G>T | |
2 | g.25244216C>G | CA346071779 | DNMT3A | c.109G>C c.936G>C (n.936G>C) c.1121G>C (p.Arg374Pro) c.1790G>C (p.Arg597Pro) c.1223G>C (p.Arg408Pro) n.109G>C c.1346G>C (p.Arg449Pro) c.1643G>C (p.Arg548Pro) c.1625G>C (p.Arg542Pro) c.1334G>C (p.Arg445Pro) c.1262G>C (p.Arg421Pro) n.2128G>C n.2067G>C n.2021G>C | |
2 | g.25244216C>T | CA346071778 | DNMT3A | c.109G>A c.936G>A (n.936G>A) c.1121G>A (p.Arg374Gln) c.1790G>A (p.Arg597Gln) c.1223G>A (p.Arg408Gln) n.109G>A c.1346G>A (p.Arg449Gln) c.1643G>A (p.Arg548Gln) c.1625G>A (p.Arg542Gln) c.1334G>A (p.Arg445Gln) c.1262G>A (p.Arg421Gln) n.2128G>A n.2067G>A n.2021G>A | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.25244217_25244218dup | CA2658168512 | DNMT3A | c.108_109dup c.935_936dup (n.935_936dup) c.1120_1121dup (p.Arg375GlyfsTer?) c.1789_1790dup (p.Arg598GlyfsTer?) c.1222_1223dup (p.Arg409GlyfsTer?) n.108_109dup c.1345_1346dup (p.Arg450GlyfsTer?) c.1642_1643dup (p.Arg549GlyfsTer?) c.1624_1625dup (p.Arg543GlyfsTer?) c.1333_1334dup (p.Arg446GlyfsTer?) c.1261_1262dup (p.Arg422GlyfsTer?) n.2127_2128dup n.2066_2067dup n.2020_2021dup | gnomAD v4 |
2 | g.25244217G>A | CA1555874 | DNMT3A | c.108C>T c.935C>T (n.935C>T) c.1120C>T (p.Arg374Trp) c.1789C>T (p.Arg597Trp) c.1222C>T (p.Arg408Trp) n.108C>T c.1345C>T (p.Arg449Trp) c.1642C>T (p.Arg548Trp) c.1624C>T (p.Arg542Trp) c.1333C>T (p.Arg445Trp) c.1261C>T (p.Arg421Trp) n.2127C>T n.2066C>T n.2020C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244217G>C | CA346071780 | DNMT3A | c.108C>G c.935C>G (n.935C>G) c.1120C>G (p.Arg374Gly) c.1789C>G (p.Arg597Gly) c.1222C>G (p.Arg408Gly) n.108C>G c.1345C>G (p.Arg449Gly) c.1642C>G (p.Arg548Gly) c.1624C>G (p.Arg542Gly) c.1333C>G (p.Arg445Gly) c.1261C>G (p.Arg421Gly) n.2127C>G n.2066C>G n.2020C>G | |
2 | g.25244217G= | CA1239262811 | DNMT3A | c.108C= c.935C= (n.935C=) c.1120C= (p.Arg374=) c.1789C= (p.Arg597=) c.1222C= (p.Arg408=) n.108C= c.1345C= (p.Arg449=) c.1642C= (p.Arg548=) c.1624C= (p.Arg542=) c.1333C= (p.Arg445=) c.1261C= (p.Arg421=) n.2127C= n.2066C= n.2020C= | |
2 | g.25244217G>T | CA425182271 | DNMT3A | c.108C>A c.935C>A (n.935C>A) c.1120C>A (p.Arg374=) c.1789C>A (p.Arg597=) c.1222C>A (p.Arg408=) n.108C>A c.1345C>A (p.Arg449=) c.1642C>A (p.Arg548=) c.1624C>A (p.Arg542=) c.1333C>A (p.Arg445=) c.1261C>A (p.Arg421=) n.2127C>A n.2066C>A n.2020C>A | |
2 | g.25244218C>A | CA425182272 | DNMT3A | c.107G>T c.934G>T (n.934G>T) c.1119G>T (p.Arg373=) c.1788G>T (p.Arg596=) c.1221G>T (p.Arg407=) n.107G>T c.1344G>T (p.Arg448=) c.1641G>T (p.Arg547=) c.1623G>T (p.Arg541=) c.1332G>T (p.Arg444=) c.1260G>T (p.Arg420=) n.2126G>T n.2065G>T n.2019G>T | |
2 | g.25244218C>G | CA425182273 | DNMT3A | c.107G>C c.934G>C (n.934G>C) c.1119G>C (p.Arg373=) c.1788G>C (p.Arg596=) c.1221G>C (p.Arg407=) n.107G>C c.1344G>C (p.Arg448=) c.1641G>C (p.Arg547=) c.1623G>C (p.Arg541=) c.1332G>C (p.Arg444=) c.1260G>C (p.Arg420=) n.2126G>C n.2065G>C n.2019G>C | |
2 | g.25244218C>T | CA425182274 | DNMT3A | c.107G>A c.934G>A (n.934G>A) c.1119G>A (p.Arg373=) c.1788G>A (p.Arg596=) c.1221G>A (p.Arg407=) n.107G>A c.1344G>A (p.Arg448=) c.1641G>A (p.Arg547=) c.1623G>A (p.Arg541=) c.1332G>A (p.Arg444=) c.1260G>A (p.Arg420=) n.2126G>A n.2065G>A n.2019G>A | |
2 | g.25244219del | CA2576694289 | DNMT3A | c.107del c.934del (n.934del) c.1119del (p.Arg374GlyfsTer?) c.1788del (p.Arg597GlyfsTer?) c.1221del (p.Arg408GlyfsTer?) n.107del c.1344del (p.Arg449GlyfsTer?) c.1641del (p.Arg548GlyfsTer?) c.1623del (p.Arg542GlyfsTer?) c.1332del (p.Arg445GlyfsTer?) c.1260del (p.Arg421GlyfsTer?) n.2126del n.2065del n.2019del | gnomAD v4 |
2 | g.25244219C>A | CA346071781 | DNMT3A | c.106G>T c.933G>T (n.933G>T) c.1118G>T (p.Arg373Leu) c.1787G>T (p.Arg596Leu) c.1220G>T (p.Arg407Leu) n.106G>T c.1343G>T (p.Arg448Leu) c.1640G>T (p.Arg547Leu) c.1622G>T (p.Arg541Leu) c.1331G>T (p.Arg444Leu) c.1259G>T (p.Arg420Leu) n.2125G>T n.2064G>T n.2018G>T | ClinVar |
2 | g.25244219C= | CA1239262814 | DNMT3A | c.106G= c.933G= (n.933G=) c.1118G= (p.Arg373=) c.1787G= (p.Arg596=) c.1220G= (p.Arg407=) n.106G= c.1343G= (p.Arg448=) c.1640G= (p.Arg547=) c.1622G= (p.Arg541=) c.1331G= (p.Arg444=) c.1259G= (p.Arg420=) n.2125G= n.2064G= n.2018G= | |
2 | g.25244219C>G | CA346071782 | DNMT3A | c.106G>C c.933G>C (n.933G>C) c.1118G>C (p.Arg373Pro) c.1787G>C (p.Arg596Pro) c.1220G>C (p.Arg407Pro) n.106G>C c.1343G>C (p.Arg448Pro) c.1640G>C (p.Arg547Pro) c.1622G>C (p.Arg541Pro) c.1331G>C (p.Arg444Pro) c.1259G>C (p.Arg420Pro) n.2125G>C n.2064G>C n.2018G>C | |
2 | g.25244219C>T | CA43703315 | DNMT3A | c.106G>A c.933G>A (n.933G>A) c.1118G>A (p.Arg373Gln) c.1787G>A (p.Arg596Gln) c.1220G>A (p.Arg407Gln) n.106G>A c.1343G>A (p.Arg448Gln) c.1640G>A (p.Arg547Gln) c.1622G>A (p.Arg541Gln) c.1331G>A (p.Arg444Gln) c.1259G>A (p.Arg420Gln) n.2125G>A n.2064G>A n.2018G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244220G>A | CA346071783 | DNMT3A | c.105C>T c.932C>T (n.932C>T) c.1117C>T (p.Arg373Trp) c.1786C>T (p.Arg596Trp) c.1219C>T (p.Arg407Trp) n.105C>T c.1342C>T (p.Arg448Trp) c.1639C>T (p.Arg547Trp) c.1621C>T (p.Arg541Trp) c.1330C>T (p.Arg444Trp) c.1258C>T (p.Arg420Trp) n.2124C>T n.2063C>T n.2017C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244220G>C | CA346071784 | DNMT3A | c.105C>G c.932C>G (n.932C>G) c.1117C>G (p.Arg373Gly) c.1786C>G (p.Arg596Gly) c.1219C>G (p.Arg407Gly) n.105C>G c.1342C>G (p.Arg448Gly) c.1639C>G (p.Arg547Gly) c.1621C>G (p.Arg541Gly) c.1330C>G (p.Arg444Gly) c.1258C>G (p.Arg420Gly) n.2124C>G n.2063C>G n.2017C>G | |
2 | g.25244220G= | CA1239262817 | DNMT3A | c.105C= c.932C= (n.932C=) c.1117C= (p.Arg373=) c.1786C= (p.Arg596=) c.1219C= (p.Arg407=) n.105C= c.1342C= (p.Arg448=) c.1639C= (p.Arg547=) c.1621C= (p.Arg541=) c.1330C= (p.Arg444=) c.1258C= (p.Arg420=) n.2124C= n.2063C= n.2017C= | |
2 | g.25244220G>T | CA425182276 | DNMT3A | c.105C>A c.932C>A (n.932C>A) c.1117C>A (p.Arg373=) c.1786C>A (p.Arg596=) c.1219C>A (p.Arg407=) n.105C>A c.1342C>A (p.Arg448=) c.1639C>A (p.Arg547=) c.1621C>A (p.Arg541=) c.1330C>A (p.Arg444=) c.1258C>A (p.Arg420=) n.2124C>A n.2063C>A n.2017C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244221C>A | CA425182277 | DNMT3A | c.104G>T c.931G>T (n.931G>T) c.1116G>T (p.Leu372=) c.1785G>T (p.Leu595=) c.1218G>T (p.Leu406=) n.104G>T c.1341G>T (p.Leu447=) c.1638G>T (p.Leu546=) c.1620G>T (p.Leu540=) c.1329G>T (p.Leu443=) c.1257G>T (p.Leu419=) n.2123G>T n.2062G>T n.2016G>T | |
2 | g.25244221C= | CA1239262821 | DNMT3A | c.104G= c.931G= (n.931G=) c.1116G= (p.Leu372=) c.1785G= (p.Leu595=) c.1218G= (p.Leu406=) n.104G= c.1341G= (p.Leu447=) c.1638G= (p.Leu546=) c.1620G= (p.Leu540=) c.1329G= (p.Leu443=) c.1257G= (p.Leu419=) n.2123G= n.2062G= n.2016G= | |
2 | g.25244221C>G | CA425182279 | DNMT3A | c.104G>C c.931G>C (n.931G>C) c.1116G>C (p.Leu372=) c.1785G>C (p.Leu595=) c.1218G>C (p.Leu406=) n.104G>C c.1341G>C (p.Leu447=) c.1638G>C (p.Leu546=) c.1620G>C (p.Leu540=) c.1329G>C (p.Leu443=) c.1257G>C (p.Leu419=) n.2123G>C n.2062G>C n.2016G>C | |
2 | g.25244221C>T | CA425182278 | DNMT3A | c.104G>A c.931G>A (n.931G>A) c.1116G>A (p.Leu372=) c.1785G>A (p.Leu595=) c.1218G>A (p.Leu406=) n.104G>A c.1341G>A (p.Leu447=) c.1638G>A (p.Leu546=) c.1620G>A (p.Leu540=) c.1329G>A (p.Leu443=) c.1257G>A (p.Leu419=) n.2123G>A n.2062G>A n.2016G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244221dup | CA2658168519 | DNMT3A | c.104dup c.931dup (n.931dup) c.1116dup (p.Arg373AlafsTer16) c.1785dup (p.Arg596AlafsTer16) c.1218dup (p.Arg407AlafsTer16) n.104dup c.1341dup (p.Arg448AlafsTer16) c.1638dup (p.Arg547AlafsTer16) c.1620dup (p.Arg541AlafsTer16) c.1329dup (p.Arg444AlafsTer16) c.1257dup (p.Arg420AlafsTer16) n.2123dup n.2062dup n.2016dup | gnomAD v4 |
2 | g.25244221_25244222delinsCA | CA1239262820 | DNMT3A | c.103_104delinsTG c.930_931delinsTG (n.930_931delinsTG) c.1115_1116delinsTG (p.Leu372=) c.1784_1785delinsTG (p.Leu595=) c.1217_1218delinsTG (p.Leu406=) n.103_104delinsTG c.1340_1341delinsTG (p.Leu447=) c.1637_1638delinsTG (p.Leu546=) c.1619_1620delinsTG (p.Leu540=) c.1328_1329delinsTG (p.Leu443=) c.1256_1257delinsTG (p.Leu419=) n.2122_2123delinsTG n.2061_2062delinsTG n.2015_2016delinsTG | |
2 | g.25244222del | CA1028509725 | DNMT3A | c.103del c.930del (n.930del) c.1115del (p.Leu372ArgfsTer?) c.1784del (p.Leu595ArgfsTer?) c.1217del (p.Leu406ArgfsTer?) n.103del c.1340del (p.Leu447ArgfsTer?) c.1637del (p.Leu546ArgfsTer?) c.1619del (p.Leu540ArgfsTer?) c.1328del (p.Leu443ArgfsTer?) c.1256del (p.Leu419ArgfsTer?) n.2122del n.2061del n.2015del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244222A= | CA1239262825 | DNMT3A | c.103T= c.930T= (n.930T=) c.1115T= (p.Leu372=) c.1784T= (p.Leu595=) c.1217T= (p.Leu406=) n.103T= c.1340T= (p.Leu447=) c.1637T= (p.Leu546=) c.1619T= (p.Leu540=) c.1328T= (p.Leu443=) c.1256T= (p.Leu419=) n.2122T= n.2061T= n.2015T= | |
2 | g.25244222A>C | CA346071785 | DNMT3A | c.103T>G c.930T>G (n.930T>G) c.1115T>G (p.Leu372Arg) c.1784T>G (p.Leu595Arg) c.1217T>G (p.Leu406Arg) n.103T>G c.1340T>G (p.Leu447Arg) c.1637T>G (p.Leu546Arg) c.1619T>G (p.Leu540Arg) c.1328T>G (p.Leu443Arg) c.1256T>G (p.Leu419Arg) n.2122T>G n.2061T>G n.2015T>G | gnomAD v3 gnomAD v4 |
2 | g.25244222A>G | CA346071786 | DNMT3A | c.103T>C c.930T>C (n.930T>C) c.1115T>C (p.Leu372Pro) c.1784T>C (p.Leu595Pro) c.1217T>C (p.Leu406Pro) n.103T>C c.1340T>C (p.Leu447Pro) c.1637T>C (p.Leu546Pro) c.1619T>C (p.Leu540Pro) c.1328T>C (p.Leu443Pro) c.1256T>C (p.Leu419Pro) n.2122T>C n.2061T>C n.2015T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244222A>T | CA346071787 | DNMT3A | c.103T>A c.930T>A (n.930T>A) c.1115T>A (p.Leu372Gln) c.1784T>A (p.Leu595Gln) c.1217T>A (p.Leu406Gln) n.103T>A c.1340T>A (p.Leu447Gln) c.1637T>A (p.Leu546Gln) c.1619T>A (p.Leu540Gln) c.1328T>A (p.Leu443Gln) c.1256T>A (p.Leu419Gln) n.2122T>A n.2061T>A n.2015T>A | |
2 | g.25244222dup | CA2658168522 | DNMT3A | c.103dup c.930dup (n.930dup) c.1115dup (p.Arg373AlafsTer16) c.1784dup (p.Arg596AlafsTer16) c.1217dup (p.Arg407AlafsTer16) n.103dup c.1340dup (p.Arg448AlafsTer16) c.1637dup (p.Arg547AlafsTer16) c.1619dup (p.Arg541AlafsTer16) c.1328dup (p.Arg444AlafsTer16) c.1256dup (p.Arg420AlafsTer16) n.2122dup n.2061dup n.2015dup | gnomAD v4 |
2 | g.25244223G>A | CA425182281 | DNMT3A | c.102C>T c.929C>T (n.929C>T) c.1114C>T (p.Leu372=) c.1783C>T (p.Leu595=) c.1216C>T (p.Leu406=) n.102C>T c.1339C>T (p.Leu447=) c.1636C>T (p.Leu546=) c.1618C>T (p.Leu540=) c.1327C>T (p.Leu443=) c.1255C>T (p.Leu419=) n.2121C>T n.2060C>T n.2014C>T | dbSNP |
2 | g.25244223G>C | CA346071789 | DNMT3A | c.102C>G c.929C>G (n.929C>G) c.1114C>G (p.Leu372Val) c.1783C>G (p.Leu595Val) c.1216C>G (p.Leu406Val) n.102C>G c.1339C>G (p.Leu447Val) c.1636C>G (p.Leu546Val) c.1618C>G (p.Leu540Val) c.1327C>G (p.Leu443Val) c.1255C>G (p.Leu419Val) n.2121C>G n.2060C>G n.2014C>G | dbSNP |
2 | g.25244223G>T | CA346071788 | DNMT3A | c.102C>A c.929C>A (n.929C>A) c.1114C>A (p.Leu372Met) c.1783C>A (p.Leu595Met) c.1216C>A (p.Leu406Met) n.102C>A c.1339C>A (p.Leu447Met) c.1636C>A (p.Leu546Met) c.1618C>A (p.Leu540Met) c.1327C>A (p.Leu443Met) c.1255C>A (p.Leu419Met) n.2121C>A n.2060C>A n.2014C>A | |
2 | g.25244224C>A | CA425182282 | DNMT3A | c.101G>T c.928G>T (n.928G>T) c.1113G>T (p.Leu371=) c.1782G>T (p.Leu594=) c.1215G>T (p.Leu405=) n.101G>T c.1338G>T (p.Leu446=) c.1635G>T (p.Leu545=) c.1617G>T (p.Leu539=) c.1326G>T (p.Leu442=) c.1254G>T (p.Leu418=) n.2120G>T n.2059G>T n.2013G>T | |
2 | g.25244224C>G | CA425182283 | DNMT3A | c.101G>C c.928G>C (n.928G>C) c.1113G>C (p.Leu371=) c.1782G>C (p.Leu594=) c.1215G>C (p.Leu405=) n.101G>C c.1338G>C (p.Leu446=) c.1635G>C (p.Leu545=) c.1617G>C (p.Leu539=) c.1326G>C (p.Leu442=) c.1254G>C (p.Leu418=) n.2120G>C n.2059G>C n.2013G>C | |
2 | g.25244224C>T | CA425182284 | DNMT3A | c.101G>A c.928G>A (n.928G>A) c.1113G>A (p.Leu371=) c.1782G>A (p.Leu594=) c.1215G>A (p.Leu405=) n.101G>A c.1338G>A (p.Leu446=) c.1635G>A (p.Leu545=) c.1617G>A (p.Leu539=) c.1326G>A (p.Leu442=) c.1254G>A (p.Leu418=) n.2120G>A n.2059G>A n.2013G>A | dbSNP |
2 | g.25244225A>C | CA346071790 | DNMT3A | c.100T>G c.927T>G (n.927T>G) c.1112T>G (p.Leu371Arg) c.1781T>G (p.Leu594Arg) c.1214T>G (p.Leu405Arg) n.100T>G c.1337T>G (p.Leu446Arg) c.1634T>G (p.Leu545Arg) c.1616T>G (p.Leu539Arg) c.1325T>G (p.Leu442Arg) c.1253T>G (p.Leu418Arg) n.2119T>G n.2058T>G n.2012T>G | |
2 | g.25244225A>G | CA346071792 | DNMT3A | c.100T>C c.927T>C (n.927T>C) c.1112T>C (p.Leu371Pro) c.1781T>C (p.Leu594Pro) c.1214T>C (p.Leu405Pro) n.100T>C c.1337T>C (p.Leu446Pro) c.1634T>C (p.Leu545Pro) c.1616T>C (p.Leu539Pro) c.1325T>C (p.Leu442Pro) c.1253T>C (p.Leu418Pro) n.2119T>C n.2058T>C n.2012T>C | |
2 | g.25244225A>T | CA346071791 | DNMT3A | c.100T>A c.927T>A (n.927T>A) c.1112T>A (p.Leu371Gln) c.1781T>A (p.Leu594Gln) c.1214T>A (p.Leu405Gln) n.100T>A c.1337T>A (p.Leu446Gln) c.1634T>A (p.Leu545Gln) c.1616T>A (p.Leu539Gln) c.1325T>A (p.Leu442Gln) c.1253T>A (p.Leu418Gln) n.2119T>A n.2058T>A n.2012T>A | |
2 | g.25244225_25244226del | CA2658168527 | DNMT3A | c.99_100del c.926_927del (n.926_927del) c.1111_1112del (p.Leu371AlafsTer17) c.1780_1781del (p.Leu594AlafsTer17) c.1213_1214del (p.Leu405AlafsTer17) n.99_100del c.1336_1337del (p.Leu446AlafsTer17) c.1633_1634del (p.Leu545AlafsTer17) c.1615_1616del (p.Leu539AlafsTer17) c.1324_1325del (p.Leu442AlafsTer17) c.1252_1253del (p.Leu418AlafsTer17) n.2118_2119del n.2057_2058del n.2011_2012del | gnomAD v4 |
2 | g.25244226G>A | CA1555875 | DNMT3A | c.99C>T c.926C>T (n.926C>T) c.1111C>T (p.Leu371=) c.1780C>T (p.Leu594=) c.1213C>T (p.Leu405=) n.99C>T c.1336C>T (p.Leu446=) c.1633C>T (p.Leu545=) c.1615C>T (p.Leu539=) c.1324C>T (p.Leu442=) c.1252C>T (p.Leu418=) n.2118C>T n.2057C>T n.2011C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244226G>C | CA346071793 | DNMT3A | c.99C>G c.926C>G (n.926C>G) c.1111C>G (p.Leu371Val) c.1780C>G (p.Leu594Val) c.1213C>G (p.Leu405Val) n.99C>G c.1336C>G (p.Leu446Val) c.1633C>G (p.Leu545Val) c.1615C>G (p.Leu539Val) c.1324C>G (p.Leu442Val) c.1252C>G (p.Leu418Val) n.2118C>G n.2057C>G n.2011C>G | |
2 | g.25244226G= | CA1239262828 | DNMT3A | c.99C= c.926C= (n.926C=) c.1111C= (p.Leu371=) c.1780C= (p.Leu594=) c.1213C= (p.Leu405=) n.99C= c.1336C= (p.Leu446=) c.1633C= (p.Leu545=) c.1615C= (p.Leu539=) c.1324C= (p.Leu442=) c.1252C= (p.Leu418=) n.2118C= n.2057C= n.2011C= | |
2 | g.25244226G>T | CA346071794 | DNMT3A | c.99C>A c.926C>A (n.926C>A) c.1111C>A (p.Leu371Met) c.1780C>A (p.Leu594Met) c.1213C>A (p.Leu405Met) n.99C>A c.1336C>A (p.Leu446Met) c.1633C>A (p.Leu545Met) c.1615C>A (p.Leu539Met) c.1324C>A (p.Leu442Met) c.1252C>A (p.Leu418Met) n.2118C>A n.2057C>A n.2011C>A | |
2 | g.25244227_25244230dup | CA2658168531 | DNMT3A | c.96_99dup c.923_926dup (n.923_926dup) c.1108_1111dup (p.Leu371ArgfsTer19) c.1777_1780dup (p.Leu594ArgfsTer19) c.1210_1213dup (p.Leu405ArgfsTer19) n.96_99dup c.1333_1336dup (p.Leu446ArgfsTer19) c.1630_1633dup (p.Leu545ArgfsTer19) c.1612_1615dup (p.Leu539ArgfsTer19) c.1321_1324dup (p.Leu442ArgfsTer19) c.1249_1252dup (p.Leu418ArgfsTer19) n.2115_2118dup n.2054_2057dup n.2008_2011dup | gnomAD v4 |
2 | g.25244227C>A | CA425182285 | DNMT3A | c.98G>T c.925G>T (n.925G>T) c.1110G>T (p.Gly370=) c.1779G>T (p.Gly593=) c.1212G>T (p.Gly404=) n.98G>T c.1335G>T (p.Gly445=) c.1632G>T (p.Gly544=) c.1614G>T (p.Gly538=) c.1323G>T (p.Gly441=) c.1251G>T (p.Gly417=) n.2117G>T n.2056G>T n.2010G>T | |
2 | g.25244227C>G | CA425182286 | DNMT3A | c.98G>C c.925G>C (n.925G>C) c.1110G>C (p.Gly370=) c.1779G>C (p.Gly593=) c.1212G>C (p.Gly404=) n.98G>C c.1335G>C (p.Gly445=) c.1632G>C (p.Gly544=) c.1614G>C (p.Gly538=) c.1323G>C (p.Gly441=) c.1251G>C (p.Gly417=) n.2117G>C n.2056G>C n.2010G>C | |
2 | g.25244227C>T | CA425182288 | DNMT3A | c.98G>A c.925G>A (n.925G>A) c.1110G>A (p.Gly370=) c.1779G>A (p.Gly593=) c.1212G>A (p.Gly404=) n.98G>A c.1335G>A (p.Gly445=) c.1632G>A (p.Gly544=) c.1614G>A (p.Gly538=) c.1323G>A (p.Gly441=) c.1251G>A (p.Gly417=) n.2117G>A n.2056G>A n.2010G>A | |
2 | g.25244229del | CA425182289 | DNMT3A | c.98del c.925del (n.925del) c.1110del (p.Leu371CysfsTer?) c.1779del (p.Leu594CysfsTer?) c.1212del (p.Leu405CysfsTer?) n.98del c.1335del (p.Leu446CysfsTer?) c.1632del (p.Leu545CysfsTer?) c.1614del (p.Leu539CysfsTer?) c.1323del (p.Leu442CysfsTer?) c.1251del (p.Leu418CysfsTer?) n.2117del n.2056del n.2010del | gnomAD v4 COSMIC COSMIC |
2 | g.25244228C>A | CA346071795 | DNMT3A | c.97G>T c.924G>T (n.924G>T) c.1109G>T (p.Gly370Val) c.1778G>T (p.Gly593Val) c.1211G>T (p.Gly404Val) n.97G>T c.1334G>T (p.Gly445Val) c.1631G>T (p.Gly544Val) c.1613G>T (p.Gly538Val) c.1322G>T (p.Gly441Val) c.1250G>T (p.Gly417Val) n.2116G>T n.2055G>T n.2009G>T | dbSNP |
2 | g.25244228C>G | CA346071796 | DNMT3A | c.97G>C c.924G>C (n.924G>C) c.1109G>C (p.Gly370Ala) c.1778G>C (p.Gly593Ala) c.1211G>C (p.Gly404Ala) n.97G>C c.1334G>C (p.Gly445Ala) c.1631G>C (p.Gly544Ala) c.1613G>C (p.Gly538Ala) c.1322G>C (p.Gly441Ala) c.1250G>C (p.Gly417Ala) n.2116G>C n.2055G>C n.2009G>C | |
2 | g.25244228C>T | CA346071797 | DNMT3A | c.97G>A c.924G>A (n.924G>A) c.1109G>A (p.Gly370Glu) c.1778G>A (p.Gly593Glu) c.1211G>A (p.Gly404Glu) n.97G>A c.1334G>A (p.Gly445Glu) c.1631G>A (p.Gly544Glu) c.1613G>A (p.Gly538Glu) c.1322G>A (p.Gly441Glu) c.1250G>A (p.Gly417Glu) n.2116G>A n.2055G>A n.2009G>A | ClinVar |
2 | g.25244229C>A | CA346071798 | DNMT3A | c.96G>T c.923G>T (n.923G>T) c.1108G>T (p.Gly370Trp) c.1777G>T (p.Gly593Trp) c.1210G>T (p.Gly404Trp) n.96G>T c.1333G>T (p.Gly445Trp) c.1630G>T (p.Gly544Trp) c.1612G>T (p.Gly538Trp) c.1321G>T (p.Gly441Trp) c.1249G>T (p.Gly417Trp) n.2115G>T n.2054G>T n.2008G>T | |
2 | g.25244229C= | CA1239262832 | DNMT3A | c.96G= c.923G= (n.923G=) c.1108G= (p.Gly370=) c.1777G= (p.Gly593=) c.1210G= (p.Gly404=) n.96G= c.1333G= (p.Gly445=) c.1630G= (p.Gly544=) c.1612G= (p.Gly538=) c.1321G= (p.Gly441=) c.1249G= (p.Gly417=) n.2115G= n.2054G= n.2008G= | |
2 | g.25244229C>G | CA346071799 | DNMT3A | c.96G>C c.923G>C (n.923G>C) c.1108G>C (p.Gly370Arg) c.1777G>C (p.Gly593Arg) c.1210G>C (p.Gly404Arg) n.96G>C c.1333G>C (p.Gly445Arg) c.1630G>C (p.Gly544Arg) c.1612G>C (p.Gly538Arg) c.1321G>C (p.Gly441Arg) c.1249G>C (p.Gly417Arg) n.2115G>C n.2054G>C n.2008G>C | |
2 | g.25244229C>T | CA1555876 | DNMT3A | c.96G>A c.923G>A (n.923G>A) c.1108G>A (p.Gly370Arg) c.1777G>A (p.Gly593Arg) c.1210G>A (p.Gly404Arg) n.96G>A c.1333G>A (p.Gly445Arg) c.1630G>A (p.Gly544Arg) c.1612G>A (p.Gly538Arg) c.1321G>A (p.Gly441Arg) c.1249G>A (p.Gly417Arg) n.2115G>A n.2054G>A n.2008G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244229_25244230insTT | CA2658168546 | DNMT3A | c.95_96insAA c.922_923insAA (n.922_923insAA) c.1107_1108insAA (p.Gly370LysfsTer?) c.1776_1777insAA (p.Gly593LysfsTer?) c.1209_1210insAA (p.Gly404LysfsTer?) n.95_96insAA c.1332_1333insAA (p.Gly445LysfsTer?) c.1629_1630insAA (p.Gly544LysfsTer?) c.1611_1612insAA (p.Gly538LysfsTer?) c.1320_1321insAA (p.Gly441LysfsTer?) c.1248_1249insAA (p.Gly417LysfsTer?) n.2114_2115insAA n.2053_2054insAA n.2007_2008insAA | gnomAD v4 |
2 | g.25244230G>A | CA43703328 | DNMT3A | c.95C>T c.922C>T (n.922C>T) c.1107C>T (p.Tyr369=) c.1776C>T (p.Tyr592=) c.1209C>T (p.Tyr403=) n.95C>T c.1332C>T (p.Tyr444=) c.1629C>T (p.Tyr543=) c.1611C>T (p.Tyr537=) c.1320C>T (p.Tyr440=) c.1248C>T (p.Tyr416=) n.2114C>T n.2053C>T n.2007C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25244230G>C | CA346071800 | DNMT3A | c.95C>G c.922C>G (n.922C>G) c.1107C>G (p.Tyr369Ter) c.1776C>G (p.Tyr592Ter) c.1209C>G (p.Tyr403Ter) n.95C>G c.1332C>G (p.Tyr444Ter) c.1629C>G (p.Tyr543Ter) c.1611C>G (p.Tyr537Ter) c.1320C>G (p.Tyr440Ter) c.1248C>G (p.Tyr416Ter) n.2114C>G n.2053C>G n.2007C>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25244230G= | CA1239262837 | DNMT3A | c.95C= c.922C= (n.922C=) c.1107C= (p.Tyr369=) c.1776C= (p.Tyr592=) c.1209C= (p.Tyr403=) n.95C= c.1332C= (p.Tyr444=) c.1629C= (p.Tyr543=) c.1611C= (p.Tyr537=) c.1320C= (p.Tyr440=) c.1248C= (p.Tyr416=) n.2114C= n.2053C= n.2007C= | |
2 | g.25244230G>T | CA1555877 | DNMT3A | c.95C>A c.922C>A (n.922C>A) c.1107C>A (p.Tyr369Ter) c.1776C>A (p.Tyr592Ter) c.1209C>A (p.Tyr403Ter) n.95C>A c.1332C>A (p.Tyr444Ter) c.1629C>A (p.Tyr543Ter) c.1611C>A (p.Tyr537Ter) c.1320C>A (p.Tyr440Ter) c.1248C>A (p.Tyr416Ter) n.2114C>A n.2053C>A n.2007C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244231T>A | CA346071803 | DNMT3A | c.94A>T c.921A>T (n.921A>T) c.1106A>T (p.Tyr369Phe) c.1775A>T (p.Tyr592Phe) c.1208A>T (p.Tyr403Phe) n.94A>T c.1331A>T (p.Tyr444Phe) c.1628A>T (p.Tyr543Phe) c.1610A>T (p.Tyr537Phe) c.1319A>T (p.Tyr440Phe) c.1247A>T (p.Tyr416Phe) n.2113A>T n.2052A>T n.2006A>T | |
2 | g.25244231T>C | CA346071802 | DNMT3A | c.94A>G c.921A>G (n.921A>G) c.1106A>G (p.Tyr369Cys) c.1775A>G (p.Tyr592Cys) c.1208A>G (p.Tyr403Cys) n.94A>G c.1331A>G (p.Tyr444Cys) c.1628A>G (p.Tyr543Cys) c.1610A>G (p.Tyr537Cys) c.1319A>G (p.Tyr440Cys) c.1247A>G (p.Tyr416Cys) n.2113A>G n.2052A>G n.2006A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244231T>G | CA346071801 | DNMT3A | c.94A>C c.921A>C (n.921A>C) c.1106A>C (p.Tyr369Ser) c.1775A>C (p.Tyr592Ser) c.1208A>C (p.Tyr403Ser) n.94A>C c.1331A>C (p.Tyr444Ser) c.1628A>C (p.Tyr543Ser) c.1610A>C (p.Tyr537Ser) c.1319A>C (p.Tyr440Ser) c.1247A>C (p.Tyr416Ser) n.2113A>C n.2052A>C n.2006A>C | dbSNP |
2 | g.25244231T= | CA1239262844 | DNMT3A | c.94A= c.921A= (n.921A=) c.1106A= (p.Tyr369=) c.1775A= (p.Tyr592=) c.1208A= (p.Tyr403=) n.94A= c.1331A= (p.Tyr444=) c.1628A= (p.Tyr543=) c.1610A= (p.Tyr537=) c.1319A= (p.Tyr440=) c.1247A= (p.Tyr416=) n.2113A= n.2052A= n.2006A= | |
2 | g.25244231_25244232insCT | CA2576694298 | DNMT3A | c.94_95insGA c.921_922insGA (n.921_922insGA) c.1106_1107insGA (p.Tyr369Ter) c.1775_1776insGA (p.Tyr592Ter) c.1208_1209insGA (p.Tyr403Ter) n.94_95insGA c.1331_1332insGA (p.Tyr444Ter) c.1628_1629insGA (p.Tyr543Ter) c.1610_1611insGA (p.Tyr537Ter) c.1319_1320insGA (p.Tyr440Ter) c.1247_1248insGA (p.Tyr416Ter) n.2113_2114insGA n.2052_2053insGA n.2006_2007insGA | |
2 | g.25244231_25244232insGCCCGCAC | CA2658168552 | DNMT3A | c.93_94insGTGCGGGC c.920_921insGTGCGGGC (n.920_921insGTGCGGGC) c.1105_1106insGTGCGGGC (p.Tyr369CysfsTer?) c.1774_1775insGTGCGGGC (p.Tyr592CysfsTer?) c.1207_1208insGTGCGGGC (p.Tyr403CysfsTer?) n.93_94insGTGCGGGC c.1330_1331insGTGCGGGC (p.Tyr444CysfsTer?) c.1627_1628insGTGCGGGC (p.Tyr543CysfsTer?) c.1609_1610insGTGCGGGC (p.Tyr537CysfsTer?) c.1318_1319insGTGCGGGC (p.Tyr440CysfsTer?) c.1246_1247insGTGCGGGC (p.Tyr416CysfsTer?) n.2112_2113insGTGCGGGC n.2051_2052insGTGCGGGC n.2005_2006insGTGCGGGC | gnomAD v4 |
2 | g.25244232del | CA2658168553 | DNMT3A | c.93del c.920del (n.920del) c.1105del (p.Tyr369ThrfsTer?) c.1774del (p.Tyr592ThrfsTer?) c.1207del (p.Tyr403ThrfsTer?) n.93del c.1330del (p.Tyr444ThrfsTer?) c.1627del (p.Tyr543ThrfsTer?) c.1609del (p.Tyr537ThrfsTer?) c.1318del (p.Tyr440ThrfsTer?) c.1246del (p.Tyr416ThrfsTer?) n.2112del n.2051del n.2005del | gnomAD v4 |
2 | g.25244232A>C | CA346071804 | DNMT3A | c.93T>G c.920T>G (n.920T>G) c.1105T>G (p.Tyr369Asp) c.1774T>G (p.Tyr592Asp) c.1207T>G (p.Tyr403Asp) n.93T>G c.1330T>G (p.Tyr444Asp) c.1627T>G (p.Tyr543Asp) c.1609T>G (p.Tyr537Asp) c.1318T>G (p.Tyr440Asp) c.1246T>G (p.Tyr416Asp) n.2112T>G n.2051T>G n.2005T>G | |
2 | g.25244232A>G | CA346071805 | DNMT3A | c.93T>C c.920T>C (n.920T>C) c.1105T>C (p.Tyr369His) c.1774T>C (p.Tyr592His) c.1207T>C (p.Tyr403His) n.93T>C c.1330T>C (p.Tyr444His) c.1627T>C (p.Tyr543His) c.1609T>C (p.Tyr537His) c.1318T>C (p.Tyr440His) c.1246T>C (p.Tyr416His) n.2112T>C n.2051T>C n.2005T>C | |
2 | g.25244232A>T | CA346071806 | DNMT3A | c.93T>A c.920T>A (n.920T>A) c.1105T>A (p.Tyr369Asn) c.1774T>A (p.Tyr592Asn) c.1207T>A (p.Tyr403Asn) n.93T>A c.1330T>A (p.Tyr444Asn) c.1627T>A (p.Tyr543Asn) c.1609T>A (p.Tyr537Asn) c.1318T>A (p.Tyr440Asn) c.1246T>A (p.Tyr416Asn) n.2112T>A n.2051T>A n.2005T>A | |
2 | g.25244232_25244233delinsAG | CA1239262847 | DNMT3A | c.92_93delinsCT c.919_920delinsCT (n.919_920delinsCT) c.1104_1105delinsCT (p.Thr368=) c.1773_1774delinsCT (p.Thr591=) c.1206_1207delinsCT (p.Thr402=) n.92_93delinsCT c.1329_1330delinsCT (p.Thr443=) c.1626_1627delinsCT (p.Thr542=) c.1608_1609delinsCT (p.Thr536=) c.1317_1318delinsCT (p.Thr439=) c.1245_1246delinsCT (p.Thr415=) n.2111_2112delinsCT n.2050_2051delinsCT n.2004_2005delinsCT | |
2 | g.25244233_25244252del | CA2658168554 | DNMT3A | c.74_93del c.901_920del (n.901_920del) c.1086_1105del (p.Met362IlefsTer20) c.1755_1774del (p.Met585IlefsTer20) c.1188_1207del (p.Met396IlefsTer20) n.74_93del c.1311_1330del (p.Met437IlefsTer20) c.1608_1627del (p.Met536IlefsTer20) c.1590_1609del (p.Met530IlefsTer20) c.1299_1318del (p.Met433IlefsTer20) c.1227_1246del (p.Met409IlefsTer20) n.2093_2112del n.2032_2051del n.1986_2005del | gnomAD v4 |
2 | g.25244233G>A | CA425182293 | DNMT3A | c.92C>T c.919C>T (n.919C>T) c.1104C>T (p.Thr368=) c.1773C>T (p.Thr591=) c.1206C>T (p.Thr402=) n.92C>T c.1329C>T (p.Thr443=) c.1626C>T (p.Thr542=) c.1608C>T (p.Thr536=) c.1317C>T (p.Thr439=) c.1245C>T (p.Thr415=) n.2111C>T n.2050C>T n.2004C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244233G>C | CA425182294 | DNMT3A | c.92C>G c.919C>G (n.919C>G) c.1104C>G (p.Thr368=) c.1773C>G (p.Thr591=) c.1206C>G (p.Thr402=) n.92C>G c.1329C>G (p.Thr443=) c.1626C>G (p.Thr542=) c.1608C>G (p.Thr536=) c.1317C>G (p.Thr439=) c.1245C>G (p.Thr415=) n.2111C>G n.2050C>G n.2004C>G | |
2 | g.25244233G= | CA1239262849 | DNMT3A | c.92C= c.919C= (n.919C=) c.1104C= (p.Thr368=) c.1773C= (p.Thr591=) c.1206C= (p.Thr402=) n.92C= c.1329C= (p.Thr443=) c.1626C= (p.Thr542=) c.1608C= (p.Thr536=) c.1317C= (p.Thr439=) c.1245C= (p.Thr415=) n.2111C= n.2050C= n.2004C= | |
2 | g.25244233G>T | CA425182298 | DNMT3A | c.92C>A c.919C>A (n.919C>A) c.1104C>A (p.Thr368=) c.1773C>A (p.Thr591=) c.1206C>A (p.Thr402=) n.92C>A c.1329C>A (p.Thr443=) c.1626C>A (p.Thr542=) c.1608C>A (p.Thr536=) c.1317C>A (p.Thr439=) c.1245C>A (p.Thr415=) n.2111C>A n.2050C>A n.2004C>A | gnomAD v4 |
2 | g.25244234dup | CA2576694300 | DNMT3A | c.92dup c.919dup (n.919dup) c.1104dup (p.Tyr369LeufsTer20) c.1773dup (p.Tyr592LeufsTer20) c.1206dup (p.Tyr403LeufsTer20) n.92dup c.1329dup (p.Tyr444LeufsTer20) c.1626dup (p.Tyr543LeufsTer20) c.1608dup (p.Tyr537LeufsTer20) c.1317dup (p.Tyr440LeufsTer20) c.1245dup (p.Tyr416LeufsTer20) n.2111dup n.2050dup n.2004dup | gnomAD v4 |
2 | g.25244234del | CA531760991 | DNMT3A | c.92del c.919del (n.919del) c.1104del (p.Tyr369ThrfsTer?) c.1773del (p.Tyr592ThrfsTer?) c.1206del (p.Tyr403ThrfsTer?) n.92del c.1329del (p.Tyr444ThrfsTer?) c.1626del (p.Tyr543ThrfsTer?) c.1608del (p.Tyr537ThrfsTer?) c.1317del (p.Tyr440ThrfsTer?) c.1245del (p.Tyr416ThrfsTer?) n.2111del n.2050del n.2004del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244233_25244240del | CA2573051230 | DNMT3A | c.85_92del c.912_919del (n.912_919del) c.1097_1104del (p.Lys366IlefsTer20) c.1766_1773del (p.Lys589IlefsTer20) c.1199_1206del (p.Lys400IlefsTer20) n.85_92del c.1322_1329del (p.Lys441IlefsTer20) c.1619_1626del (p.Lys540IlefsTer20) c.1601_1608del (p.Lys534IlefsTer20) c.1310_1317del (p.Lys437IlefsTer20) c.1238_1245del (p.Lys413IlefsTer20) n.2104_2111del n.2043_2050del n.1997_2004del | |
2 | g.25244234_25244248del | CA2576694301 | DNMT3A | c.78_92del c.905_919del (n.905_919del) c.1090_1104del (p.Gly364_Thr368del) c.1759_1773del (p.Gly587_Thr591del) c.1192_1206del (p.Gly398_Thr402del) n.78_92del c.1315_1329del (p.Gly439_Thr443del) c.1612_1626del (p.Gly538_Thr542del) c.1594_1608del (p.Gly532_Thr536del) c.1303_1317del (p.Gly435_Thr439del) c.1231_1245del (p.Gly411_Thr415del) n.2097_2111del n.2036_2050del n.1990_2004del | |
2 | g.25244234G>A | CA346071807 | DNMT3A | c.91C>T c.918C>T (n.918C>T) c.1103C>T (p.Thr368Ile) c.1772C>T (p.Thr591Ile) c.1205C>T (p.Thr402Ile) n.91C>T c.1328C>T (p.Thr443Ile) c.1625C>T (p.Thr542Ile) c.1607C>T (p.Thr536Ile) c.1316C>T (p.Thr439Ile) c.1244C>T (p.Thr415Ile) n.2110C>T n.2049C>T n.2003C>T | dbSNP |
2 | g.25244234G>C | CA346071808 | DNMT3A | c.91C>G c.918C>G (n.918C>G) c.1103C>G (p.Thr368Ser) c.1772C>G (p.Thr591Ser) c.1205C>G (p.Thr402Ser) n.91C>G c.1328C>G (p.Thr443Ser) c.1625C>G (p.Thr542Ser) c.1607C>G (p.Thr536Ser) c.1316C>G (p.Thr439Ser) c.1244C>G (p.Thr415Ser) n.2110C>G n.2049C>G n.2003C>G | dbSNP |
2 | g.25244234G>T | CA346071809 | DNMT3A | c.91C>A c.918C>A (n.918C>A) c.1103C>A (p.Thr368Asn) c.1772C>A (p.Thr591Asn) c.1205C>A (p.Thr402Asn) n.91C>A c.1328C>A (p.Thr443Asn) c.1625C>A (p.Thr542Asn) c.1607C>A (p.Thr536Asn) c.1316C>A (p.Thr439Asn) c.1244C>A (p.Thr415Asn) n.2110C>A n.2049C>A n.2003C>A | |
2 | g.25244234_25244240del | CA2658168561 | DNMT3A | c.85_91del c.912_918del (n.912_918del) c.1097_1103del (p.Lys366ThrfsTer?) c.1766_1772del (p.Lys589ThrfsTer?) c.1199_1205del (p.Lys400ThrfsTer?) n.85_91del c.1322_1328del (p.Lys441ThrfsTer?) c.1619_1625del (p.Lys540ThrfsTer?) c.1601_1607del (p.Lys534ThrfsTer?) c.1310_1316del (p.Lys437ThrfsTer?) c.1238_1244del (p.Lys413ThrfsTer?) n.2104_2110del n.2043_2049del n.1997_2003del | gnomAD v4 |
2 | g.25244235del | CA2658168563 | DNMT3A | c.90del c.917del (n.917del) c.1102del (p.Thr368ProfsTer?) c.1771del (p.Thr591ProfsTer?) c.1204del (p.Thr402ProfsTer?) n.90del c.1327del (p.Thr443ProfsTer?) c.1624del (p.Thr542ProfsTer?) c.1606del (p.Thr536ProfsTer?) c.1315del (p.Thr439ProfsTer?) c.1243del (p.Thr415ProfsTer?) n.2109del n.2048del n.2002del | gnomAD v4 |
2 | g.25244235T>A | CA1555878 | DNMT3A | c.90A>T c.917A>T (n.917A>T) c.1102A>T (p.Thr368Ser) c.1771A>T (p.Thr591Ser) c.1204A>T (p.Thr402Ser) n.90A>T c.1327A>T (p.Thr443Ser) c.1624A>T (p.Thr542Ser) c.1606A>T (p.Thr536Ser) c.1315A>T (p.Thr439Ser) c.1243A>T (p.Thr415Ser) n.2109A>T n.2048A>T n.2002A>T | dbSNP ExAC gnomAD v2 |
2 | g.25244235T>C | CA346071810 | DNMT3A | c.90A>G c.917A>G (n.917A>G) c.1102A>G (p.Thr368Ala) c.1771A>G (p.Thr591Ala) c.1204A>G (p.Thr402Ala) n.90A>G c.1327A>G (p.Thr443Ala) c.1624A>G (p.Thr542Ala) c.1606A>G (p.Thr536Ala) c.1315A>G (p.Thr439Ala) c.1243A>G (p.Thr415Ala) n.2109A>G n.2048A>G n.2002A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25244235T>G | CA346071811 | DNMT3A | c.90A>C c.917A>C (n.917A>C) c.1102A>C (p.Thr368Pro) c.1771A>C (p.Thr591Pro) c.1204A>C (p.Thr402Pro) n.90A>C c.1327A>C (p.Thr443Pro) c.1624A>C (p.Thr542Pro) c.1606A>C (p.Thr536Pro) c.1315A>C (p.Thr439Pro) c.1243A>C (p.Thr415Pro) n.2109A>C n.2048A>C n.2002A>C | |
2 | g.25244235T= | CA1239262855 | DNMT3A | c.90A= c.917A= (n.917A=) c.1102A= (p.Thr368=) c.1771A= (p.Thr591=) c.1204A= (p.Thr402=) n.90A= c.1327A= (p.Thr443=) c.1624A= (p.Thr542=) c.1606A= (p.Thr536=) c.1315A= (p.Thr439=) c.1243A= (p.Thr415=) n.2109A= n.2048A= n.2002A= | |
2 | g.25244236A>C | CA425182301 | DNMT3A | c.89T>G c.916T>G (n.916T>G) c.1101T>G (p.Gly367=) c.1770T>G (p.Gly590=) c.1203T>G (p.Gly401=) n.89T>G c.1326T>G (p.Gly442=) c.1623T>G (p.Gly541=) c.1605T>G (p.Gly535=) c.1314T>G (p.Gly438=) c.1242T>G (p.Gly414=) n.2108T>G n.2047T>G n.2001T>G | |
2 | g.25244236A>G | CA425182303 | DNMT3A | c.89T>C c.916T>C (n.916T>C) c.1101T>C (p.Gly367=) c.1770T>C (p.Gly590=) c.1203T>C (p.Gly401=) n.89T>C c.1326T>C (p.Gly442=) c.1623T>C (p.Gly541=) c.1605T>C (p.Gly535=) c.1314T>C (p.Gly438=) c.1242T>C (p.Gly414=) n.2108T>C n.2047T>C n.2001T>C | |
2 | g.25244236A>T | CA425182304 | DNMT3A | c.89T>A c.916T>A (n.916T>A) c.1101T>A (p.Gly367=) c.1770T>A (p.Gly590=) c.1203T>A (p.Gly401=) n.89T>A c.1326T>A (p.Gly442=) c.1623T>A (p.Gly541=) c.1605T>A (p.Gly535=) c.1314T>A (p.Gly438=) c.1242T>A (p.Gly414=) n.2108T>A n.2047T>A n.2001T>A | dbSNP |
2 | g.25244236_25244242del | CA2576694302 | DNMT3A | c.83_89del c.910_916del (n.910_916del) c.1095_1101del (p.His365GlnfsTer?) c.1764_1770del (p.His588GlnfsTer?) c.1197_1203del (p.His399GlnfsTer?) n.83_89del c.1320_1326del (p.His440GlnfsTer?) c.1617_1623del (p.His539GlnfsTer?) c.1599_1605del (p.His533GlnfsTer?) c.1308_1314del (p.His436GlnfsTer?) c.1236_1242del (p.His412GlnfsTer?) n.2102_2108del n.2041_2047del n.1995_2001del | |
2 | g.25244237C>A | CA346071812 | DNMT3A | c.88G>T c.915G>T (n.915G>T) c.1100G>T (p.Gly367Val) c.1769G>T (p.Gly590Val) c.1202G>T (p.Gly401Val) n.88G>T c.1325G>T (p.Gly442Val) c.1622G>T (p.Gly541Val) c.1604G>T (p.Gly535Val) c.1313G>T (p.Gly438Val) c.1241G>T (p.Gly414Val) n.2107G>T n.2046G>T n.2000G>T | |
2 | g.25244237C>G | CA346071813 | DNMT3A | c.88G>C c.915G>C (n.915G>C) c.1100G>C (p.Gly367Ala) c.1769G>C (p.Gly590Ala) c.1202G>C (p.Gly401Ala) n.88G>C c.1325G>C (p.Gly442Ala) c.1622G>C (p.Gly541Ala) c.1604G>C (p.Gly535Ala) c.1313G>C (p.Gly438Ala) c.1241G>C (p.Gly414Ala) n.2107G>C n.2046G>C n.2000G>C | |
2 | g.25244237C>T | CA346071814 | DNMT3A | c.88G>A c.915G>A (n.915G>A) c.1100G>A (p.Gly367Asp) c.1769G>A (p.Gly590Asp) c.1202G>A (p.Gly401Asp) n.88G>A c.1325G>A (p.Gly442Asp) c.1622G>A (p.Gly541Asp) c.1604G>A (p.Gly535Asp) c.1313G>A (p.Gly438Asp) c.1241G>A (p.Gly414Asp) n.2107G>A n.2046G>A n.2000G>A | dbSNP |
2 | g.25244239dup | CA2658168568 | DNMT3A | c.88dup c.915dup (n.915dup) c.1100dup (p.Thr368TyrfsTer21) c.1769dup (p.Thr591TyrfsTer21) c.1202dup (p.Thr402TyrfsTer21) n.88dup c.1325dup (p.Thr443TyrfsTer21) c.1622dup (p.Thr542TyrfsTer21) c.1604dup (p.Thr536TyrfsTer21) c.1313dup (p.Thr439TyrfsTer21) c.1241dup (p.Thr415TyrfsTer21) n.2107dup n.2046dup n.2000dup | gnomAD v4 |
2 | g.25244239del | CA425182311 | DNMT3A | c.88del c.915del (n.915del) c.1100del (p.Gly367ValfsTer?) c.1769del (p.Gly590ValfsTer?) c.1202del (p.Gly401ValfsTer?) n.88del c.1325del (p.Gly442ValfsTer?) c.1622del (p.Gly541ValfsTer?) c.1604del (p.Gly535ValfsTer?) c.1313del (p.Gly438ValfsTer?) c.1241del (p.Gly414ValfsTer?) n.2107del n.2046del n.2000del | gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.25244238C>A | CA346071817 | DNMT3A | c.87G>T c.914G>T (n.914G>T) c.1099G>T (p.Gly367Cys) c.1768G>T (p.Gly590Cys) c.1201G>T (p.Gly401Cys) n.87G>T c.1324G>T (p.Gly442Cys) c.1621G>T (p.Gly541Cys) c.1603G>T (p.Gly535Cys) c.1312G>T (p.Gly438Cys) c.1240G>T (p.Gly414Cys) n.2106G>T n.2045G>T n.1999G>T | |
2 | g.25244238C>G | CA346071815 | DNMT3A | c.87G>C c.914G>C (n.914G>C) c.1099G>C (p.Gly367Arg) c.1768G>C (p.Gly590Arg) c.1201G>C (p.Gly401Arg) n.87G>C c.1324G>C (p.Gly442Arg) c.1621G>C (p.Gly541Arg) c.1603G>C (p.Gly535Arg) c.1312G>C (p.Gly438Arg) c.1240G>C (p.Gly414Arg) n.2106G>C n.2045G>C n.1999G>C | |
2 | g.25244238C>T | CA346071816 | DNMT3A | c.87G>A c.914G>A (n.914G>A) c.1099G>A (p.Gly367Ser) c.1768G>A (p.Gly590Ser) c.1201G>A (p.Gly401Ser) n.87G>A c.1324G>A (p.Gly442Ser) c.1621G>A (p.Gly541Ser) c.1603G>A (p.Gly535Ser) c.1312G>A (p.Gly438Ser) c.1240G>A (p.Gly414Ser) n.2106G>A n.2045G>A n.1999G>A | gnomAD v4 |
2 | g.25244239C>A | CA346071818 | DNMT3A | c.86G>T c.913G>T (n.913G>T) c.1098G>T (p.Lys366Asn) c.1767G>T (p.Lys589Asn) c.1200G>T (p.Lys400Asn) n.86G>T c.1323G>T (p.Lys441Asn) c.1620G>T (p.Lys540Asn) c.1602G>T (p.Lys534Asn) c.1311G>T (p.Lys437Asn) c.1239G>T (p.Lys413Asn) n.2105G>T n.2044G>T n.1998G>T | dbSNP |
2 | g.25244239C>G | CA346071819 | DNMT3A | c.86G>C c.913G>C (n.913G>C) c.1098G>C (p.Lys366Asn) c.1767G>C (p.Lys589Asn) c.1200G>C (p.Lys400Asn) n.86G>C c.1323G>C (p.Lys441Asn) c.1620G>C (p.Lys540Asn) c.1602G>C (p.Lys534Asn) c.1311G>C (p.Lys437Asn) c.1239G>C (p.Lys413Asn) n.2105G>C n.2044G>C n.1998G>C | |
2 | g.25244239C>T | CA425182320 | DNMT3A | c.86G>A c.913G>A (n.913G>A) c.1098G>A (p.Lys366=) c.1767G>A (p.Lys589=) c.1200G>A (p.Lys400=) n.86G>A c.1323G>A (p.Lys441=) c.1620G>A (p.Lys540=) c.1602G>A (p.Lys534=) c.1311G>A (p.Lys437=) c.1239G>A (p.Lys413=) n.2105G>A n.2044G>A n.1998G>A | |
2 | g.25244240T>A | CA346071820 | DNMT3A | c.85A>T c.912A>T (n.912A>T) c.1097A>T (p.Lys366Met) c.1766A>T (p.Lys589Met) c.1199A>T (p.Lys400Met) n.85A>T c.1322A>T (p.Lys441Met) c.1619A>T (p.Lys540Met) c.1601A>T (p.Lys534Met) c.1310A>T (p.Lys437Met) c.1238A>T (p.Lys413Met) n.2104A>T n.2043A>T n.1997A>T | gnomAD v4 |
2 | g.25244240T>C | CA346071821 | DNMT3A | c.85A>G c.912A>G (n.912A>G) c.1097A>G (p.Lys366Arg) c.1766A>G (p.Lys589Arg) c.1199A>G (p.Lys400Arg) n.85A>G c.1322A>G (p.Lys441Arg) c.1619A>G (p.Lys540Arg) c.1601A>G (p.Lys534Arg) c.1310A>G (p.Lys437Arg) c.1238A>G (p.Lys413Arg) n.2104A>G n.2043A>G n.1997A>G | ClinVar dbSNP gnomAD v4 |
2 | g.25244240T>G | CA346071822 | DNMT3A | c.85A>C c.912A>C (n.912A>C) c.1097A>C (p.Lys366Thr) c.1766A>C (p.Lys589Thr) c.1199A>C (p.Lys400Thr) n.85A>C c.1322A>C (p.Lys441Thr) c.1619A>C (p.Lys540Thr) c.1601A>C (p.Lys534Thr) c.1310A>C (p.Lys437Thr) c.1238A>C (p.Lys413Thr) n.2104A>C n.2043A>C n.1997A>C | |
2 | g.25244240T= | CA1239262860 | DNMT3A | c.85A= c.912A= (n.912A=) c.1097A= (p.Lys366=) c.1766A= (p.Lys589=) c.1199A= (p.Lys400=) n.85A= c.1322A= (p.Lys441=) c.1619A= (p.Lys540=) c.1601A= (p.Lys534=) c.1310A= (p.Lys437=) c.1238A= (p.Lys413=) n.2104A= n.2043A= n.1997A= | |
2 | g.25244241del | CA2576694303 | DNMT3A | c.85del c.912del (n.912del) c.1097del (p.Lys366ArgfsTer?) c.1766del (p.Lys589ArgfsTer?) c.1199del (p.Lys400ArgfsTer?) n.85del c.1322del (p.Lys441ArgfsTer?) c.1619del (p.Lys540ArgfsTer?) c.1601del (p.Lys534ArgfsTer?) c.1310del (p.Lys437ArgfsTer?) c.1238del (p.Lys413ArgfsTer?) n.2104del n.2043del n.1997del | gnomAD v4 |
2 | g.25244240_25244241insG | CA2658168575 | DNMT3A | c.84_85insC c.911_912insC (n.911_912insC) c.1096_1097insC (p.Lys366ThrfsTer23) c.1765_1766insC (p.Lys589ThrfsTer23) c.1198_1199insC (p.Lys400ThrfsTer23) n.84_85insC c.1321_1322insC (p.Lys441ThrfsTer23) c.1618_1619insC (p.Lys540ThrfsTer23) c.1600_1601insC (p.Lys534ThrfsTer23) c.1309_1310insC (p.Lys437ThrfsTer23) c.1237_1238insC (p.Lys413ThrfsTer23) n.2103_2104insC n.2042_2043insC n.1996_1997insC | gnomAD v4 |
2 | g.25244241T>A | CA346071823 | DNMT3A | c.84A>T c.911A>T (n.911A>T) c.1096A>T (p.Lys366Ter) c.1765A>T (p.Lys589Ter) c.1198A>T (p.Lys400Ter) n.84A>T c.1321A>T (p.Lys441Ter) c.1618A>T (p.Lys540Ter) c.1600A>T (p.Lys534Ter) c.1309A>T (p.Lys437Ter) c.1237A>T (p.Lys413Ter) n.2103A>T n.2042A>T n.1996A>T | gnomAD v4 |
2 | g.25244241T>C | CA346071824 | DNMT3A | c.84A>G c.911A>G (n.911A>G) c.1096A>G (p.Lys366Glu) c.1765A>G (p.Lys589Glu) c.1198A>G (p.Lys400Glu) n.84A>G c.1321A>G (p.Lys441Glu) c.1618A>G (p.Lys540Glu) c.1600A>G (p.Lys534Glu) c.1309A>G (p.Lys437Glu) c.1237A>G (p.Lys413Glu) n.2103A>G n.2042A>G n.1996A>G | gnomAD v4 |
2 | g.25244241T>G | CA346071825 | DNMT3A | c.84A>C c.911A>C (n.911A>C) c.1096A>C (p.Lys366Gln) c.1765A>C (p.Lys589Gln) c.1198A>C (p.Lys400Gln) n.84A>C c.1321A>C (p.Lys441Gln) c.1618A>C (p.Lys540Gln) c.1600A>C (p.Lys534Gln) c.1309A>C (p.Lys437Gln) c.1237A>C (p.Lys413Gln) n.2103A>C n.2042A>C n.1996A>C | |
2 | g.25244241_25244242delinsTG | CA1239262862 | DNMT3A | c.83_84delinsCA c.910_911delinsCA (n.910_911delinsCA) c.1095_1096delinsCA (p.His365=) c.1764_1765delinsCA (p.His588=) c.1197_1198delinsCA (p.His399=) n.83_84delinsCA c.1320_1321delinsCA (p.His440=) c.1617_1618delinsCA (p.His539=) c.1599_1600delinsCA (p.His533=) c.1308_1309delinsCA (p.His436=) c.1236_1237delinsCA (p.His412=) n.2102_2103delinsCA n.2041_2042delinsCA n.1995_1996delinsCA | |
2 | g.25244242del | CA1555879 | DNMT3A | c.83del c.910del (n.910del) c.1095del (p.His365GlnfsTer?) c.1764del (p.His588GlnfsTer?) c.1197del (p.His399GlnfsTer?) n.83del c.1320del (p.His440GlnfsTer?) c.1617del (p.His539GlnfsTer?) c.1599del (p.His533GlnfsTer?) c.1308del (p.His436GlnfsTer?) c.1236del (p.His412GlnfsTer?) n.2102del n.2041del n.1995del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25244242G>A | CA425182329 | DNMT3A | c.83C>T c.910C>T (n.910C>T) c.1095C>T (p.His365=) c.1764C>T (p.His588=) c.1197C>T (p.His399=) n.83C>T c.1320C>T (p.His440=) c.1617C>T (p.His539=) c.1599C>T (p.His533=) c.1308C>T (p.His436=) c.1236C>T (p.His412=) n.2102C>T n.2041C>T n.1995C>T | dbSNP gnomAD v4 |
2 | g.25244242G>C | CA346071826 | DNMT3A | c.83C>G c.910C>G (n.910C>G) c.1095C>G (p.His365Gln) c.1764C>G (p.His588Gln) c.1197C>G (p.His399Gln) n.83C>G c.1320C>G (p.His440Gln) c.1617C>G (p.His539Gln) c.1599C>G (p.His533Gln) c.1308C>G (p.His436Gln) c.1236C>G (p.His412Gln) n.2102C>G n.2041C>G n.1995C>G | gnomAD v4 |
2 | g.25244242G>T | CA346071827 | DNMT3A | c.83C>A c.910C>A (n.910C>A) c.1095C>A (p.His365Gln) c.1764C>A (p.His588Gln) c.1197C>A (p.His399Gln) n.83C>A c.1320C>A (p.His440Gln) c.1617C>A (p.His539Gln) c.1599C>A (p.His533Gln) c.1308C>A (p.His436Gln) c.1236C>A (p.His412Gln) n.2102C>A n.2041C>A n.1995C>A | |
2 | g.25244243T>A | CA346071828 | DNMT3A | c.82A>T c.909A>T (n.909A>T) c.1094A>T (p.His365Leu) c.1763A>T (p.His588Leu) c.1196A>T (p.His399Leu) n.82A>T c.1319A>T (p.His440Leu) c.1616A>T (p.His539Leu) c.1598A>T (p.His533Leu) c.1307A>T (p.His436Leu) c.1235A>T (p.His412Leu) n.2101A>T n.2040A>T n.1994A>T | |
2 | g.25244243T>C | CA346071829 | DNMT3A | c.82A>G c.909A>G (n.909A>G) c.1094A>G (p.His365Arg) c.1763A>G (p.His588Arg) c.1196A>G (p.His399Arg) n.82A>G c.1319A>G (p.His440Arg) c.1616A>G (p.His539Arg) c.1598A>G (p.His533Arg) c.1307A>G (p.His436Arg) c.1235A>G (p.His412Arg) n.2101A>G n.2040A>G n.1994A>G | |
2 | g.25244243T>G | CA346071830 | DNMT3A | c.82A>C c.909A>C (n.909A>C) c.1094A>C (p.His365Pro) c.1763A>C (p.His588Pro) c.1196A>C (p.His399Pro) n.82A>C c.1319A>C (p.His440Pro) c.1616A>C (p.His539Pro) c.1598A>C (p.His533Pro) c.1307A>C (p.His436Pro) c.1235A>C (p.His412Pro) n.2101A>C n.2040A>C n.1994A>C | |
2 | g.25244243_25244253del | CA2576694304 | DNMT3A | c.72_82del c.899_909del (n.899_909del) c.1084_1094del (p.Met362GlnfsTer23) c.1753_1763del (p.Met585GlnfsTer23) c.1186_1196del (p.Met396GlnfsTer23) n.72_82del c.1309_1319del (p.Met437GlnfsTer23) c.1606_1616del (p.Met536GlnfsTer23) c.1588_1598del (p.Met530GlnfsTer23) c.1297_1307del (p.Met433GlnfsTer23) c.1225_1235del (p.Met409GlnfsTer23) n.2091_2101del n.2030_2040del n.1984_1994del | |
2 | g.25244244G>A | CA346071833 | DNMT3A | c.81C>T c.908C>T (n.908C>T) c.1093C>T (p.His365Tyr) c.1762C>T (p.His588Tyr) c.1195C>T (p.His399Tyr) n.81C>T c.1318C>T (p.His440Tyr) c.1615C>T (p.His539Tyr) c.1597C>T (p.His533Tyr) c.1306C>T (p.His436Tyr) c.1234C>T (p.His412Tyr) n.2100C>T n.2039C>T n.1993C>T | |
2 | g.25244244G>C | CA346071832 | DNMT3A | c.81C>G c.908C>G (n.908C>G) c.1093C>G (p.His365Asp) c.1762C>G (p.His588Asp) c.1195C>G (p.His399Asp) n.81C>G c.1318C>G (p.His440Asp) c.1615C>G (p.His539Asp) c.1597C>G (p.His533Asp) c.1306C>G (p.His436Asp) c.1234C>G (p.His412Asp) n.2100C>G n.2039C>G n.1993C>G | |
2 | g.25244244G>T | CA346071831 | DNMT3A | c.81C>A c.908C>A (n.908C>A) c.1093C>A (p.His365Asn) c.1762C>A (p.His588Asn) c.1195C>A (p.His399Asn) n.81C>A c.1318C>A (p.His440Asn) c.1615C>A (p.His539Asn) c.1597C>A (p.His533Asn) c.1306C>A (p.His436Asn) c.1234C>A (p.His412Asn) n.2100C>A n.2039C>A n.1993C>A | gnomAD v4 |
2 | g.25244244_25244245del | CA2658168591 | DNMT3A | c.80_81del c.907_908del (n.907_908del) c.1092_1093del (p.His365GlnfsTer23) c.1761_1762del (p.His588GlnfsTer23) c.1194_1195del (p.His399GlnfsTer23) n.80_81del c.1317_1318del (p.His440GlnfsTer23) c.1614_1615del (p.His539GlnfsTer23) c.1596_1597del (p.His533GlnfsTer23) c.1305_1306del (p.His436GlnfsTer23) c.1233_1234del (p.His412GlnfsTer23) n.2099_2100del n.2038_2039del n.1992_1993del | gnomAD v4 |
2 | g.25244244_25244245delinsGC | CA1239262866 | DNMT3A | c.80_81delinsGC c.907_908delinsGC (n.907_908delinsGC) c.1092_1093delinsGC (p.Gly364=) c.1761_1762delinsGC (p.Gly587=) c.1194_1195delinsGC (p.Gly398=) n.80_81delinsGC c.1317_1318delinsGC (p.Gly439=) c.1614_1615delinsGC (p.Gly538=) c.1596_1597delinsGC (p.Gly532=) c.1305_1306delinsGC (p.Gly435=) c.1233_1234delinsGC (p.Gly411=) n.2099_2100delinsGC n.2038_2039delinsGC n.1992_1993delinsGC | |
2 | g.25244246_25244249dup | CA2658168586 | DNMT3A | c.78_81dup c.905_908dup (n.905_908dup) c.1090_1093dup (p.His365ArgfsTer25) c.1759_1762dup (p.His588ArgfsTer25) c.1192_1195dup (p.His399ArgfsTer25) n.78_81dup c.1315_1318dup (p.His440ArgfsTer25) c.1612_1615dup (p.His539ArgfsTer25) c.1594_1597dup (p.His533ArgfsTer25) c.1303_1306dup (p.His436ArgfsTer25) c.1231_1234dup (p.His412ArgfsTer25) n.2097_2100dup n.2036_2039dup n.1990_1993dup | gnomAD v4 |
2 | g.25244245C>A | CA425182342 | DNMT3A | c.80G>T c.907G>T (n.907G>T) c.1092G>T (p.Gly364=) c.1761G>T (p.Gly587=) c.1194G>T (p.Gly398=) n.80G>T c.1317G>T (p.Gly439=) c.1614G>T (p.Gly538=) c.1596G>T (p.Gly532=) c.1305G>T (p.Gly435=) c.1233G>T (p.Gly411=) n.2099G>T n.2038G>T n.1992G>T | gnomAD v4 |
2 | g.25244245C>G | CA425182343 | DNMT3A | c.80G>C c.907G>C (n.907G>C) c.1092G>C (p.Gly364=) c.1761G>C (p.Gly587=) c.1194G>C (p.Gly398=) n.80G>C c.1317G>C (p.Gly439=) c.1614G>C (p.Gly538=) c.1596G>C (p.Gly532=) c.1305G>C (p.Gly435=) c.1233G>C (p.Gly411=) n.2099G>C n.2038G>C n.1992G>C | |
2 | g.25244245C>T | CA425182345 | DNMT3A | c.80G>A c.907G>A (n.907G>A) c.1092G>A (p.Gly364=) c.1761G>A (p.Gly587=) c.1194G>A (p.Gly398=) n.80G>A c.1317G>A (p.Gly439=) c.1614G>A (p.Gly538=) c.1596G>A (p.Gly532=) c.1305G>A (p.Gly435=) c.1233G>A (p.Gly411=) n.2099G>A n.2038G>A n.1992G>A | dbSNP |
2 | g.25244247del | CA767176377 | DNMT3A | c.80del c.907del (n.907del) c.1092del (p.His365ThrfsTer?) c.1761del (p.His588ThrfsTer?) c.1194del (p.His399ThrfsTer?) n.80del c.1317del (p.His440ThrfsTer?) c.1614del (p.His539ThrfsTer?) c.1596del (p.His533ThrfsTer?) c.1305del (p.His436ThrfsTer?) c.1233del (p.His412ThrfsTer?) n.2099del n.2038del n.1992del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25244246C>A | CA346071834 | DNMT3A | c.79G>T c.906G>T (n.906G>T) c.1091G>T (p.Gly364Val) c.1760G>T (p.Gly587Val) c.1193G>T (p.Gly398Val) n.79G>T c.1316G>T (p.Gly439Val) c.1613G>T (p.Gly538Val) c.1595G>T (p.Gly532Val) c.1304G>T (p.Gly435Val) c.1232G>T (p.Gly411Val) n.2098G>T n.2037G>T n.1991G>T | gnomAD v4 |
2 | g.25244246C>G | CA346071835 | DNMT3A | c.79G>C c.906G>C (n.906G>C) c.1091G>C (p.Gly364Ala) c.1760G>C (p.Gly587Ala) c.1193G>C (p.Gly398Ala) n.79G>C c.1316G>C (p.Gly439Ala) c.1613G>C (p.Gly538Ala) c.1595G>C (p.Gly532Ala) c.1304G>C (p.Gly435Ala) c.1232G>C (p.Gly411Ala) n.2098G>C n.2037G>C n.1991G>C | |
2 | g.25244246C>T | CA346071836 | DNMT3A | c.79G>A c.906G>A (n.906G>A) c.1091G>A (p.Gly364Glu) c.1760G>A (p.Gly587Glu) c.1193G>A (p.Gly398Glu) n.79G>A c.1316G>A (p.Gly439Glu) c.1613G>A (p.Gly538Glu) c.1595G>A (p.Gly532Glu) c.1304G>A (p.Gly435Glu) c.1232G>A (p.Gly411Glu) n.2098G>A n.2037G>A n.1991G>A | gnomAD v4 |
2 | g.25244247C>A | CA346071837 | DNMT3A | c.78G>T c.905G>T (n.905G>T) c.1090G>T (p.Gly364Trp) c.1759G>T (p.Gly587Trp) c.1192G>T (p.Gly398Trp) n.78G>T c.1315G>T (p.Gly439Trp) c.1612G>T (p.Gly538Trp) c.1594G>T (p.Gly532Trp) c.1303G>T (p.Gly435Trp) c.1231G>T (p.Gly411Trp) n.2097G>T n.2036G>T n.1990G>T | ClinVar dbSNP |
2 | g.25244247C= | CA1239262869 | DNMT3A | c.78G= c.905G= (n.905G=) c.1090G= (p.Gly364=) c.1759G= (p.Gly587=) c.1192G= (p.Gly398=) n.78G= c.1315G= (p.Gly439=) c.1612G= (p.Gly538=) c.1594G= (p.Gly532=) c.1303G= (p.Gly435=) c.1231G= (p.Gly411=) n.2097G= n.2036G= n.1990G= | |
2 | g.25244247C>G | CA346071838 | DNMT3A | c.78G>C c.905G>C (n.905G>C) c.1090G>C (p.Gly364Arg) c.1759G>C (p.Gly587Arg) c.1192G>C (p.Gly398Arg) n.78G>C c.1315G>C (p.Gly439Arg) c.1612G>C (p.Gly538Arg) c.1594G>C (p.Gly532Arg) c.1303G>C (p.Gly435Arg) c.1231G>C (p.Gly411Arg) n.2097G>C n.2036G>C n.1990G>C | |
2 | g.25244247C>T | CA346071839 | DNMT3A | c.78G>A c.905G>A (n.905G>A) c.1090G>A (p.Gly364Arg) c.1759G>A (p.Gly587Arg) c.1192G>A (p.Gly398Arg) n.78G>A c.1315G>A (p.Gly439Arg) c.1612G>A (p.Gly538Arg) c.1594G>A (p.Gly532Arg) c.1303G>A (p.Gly435Arg) c.1231G>A (p.Gly411Arg) n.2097G>A n.2036G>A n.1990G>A | dbSNP gnomAD v4 |
2 | g.25244248del | CA2658168606 | DNMT3A | c.77del c.904del (n.904del) c.1089del (p.Cys363TrpfsTer?) c.1758del (p.Cys586TrpfsTer?) c.1191del (p.Cys397TrpfsTer?) n.77del c.1314del (p.Cys438TrpfsTer?) c.1611del (p.Cys537TrpfsTer?) c.1593del (p.Cys531TrpfsTer?) c.1302del (p.Cys434TrpfsTer?) c.1230del (p.Cys410TrpfsTer?) n.2096del n.2035del n.1989del | gnomAD v4 |
2 | g.25244248G>A | CA1555880 | DNMT3A | c.77C>T c.904C>T (n.904C>T) c.1089C>T (p.Cys363=) c.1758C>T (p.Cys586=) c.1191C>T (p.Cys397=) n.77C>T c.1314C>T (p.Cys438=) c.1611C>T (p.Cys537=) c.1593C>T (p.Cys531=) c.1302C>T (p.Cys434=) c.1230C>T (p.Cys410=) n.2096C>T n.2035C>T n.1989C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25244248G>C | CA346071840 | DNMT3A | c.77C>G c.904C>G (n.904C>G) c.1089C>G (p.Cys363Trp) c.1758C>G (p.Cys586Trp) c.1191C>G (p.Cys397Trp) n.77C>G c.1314C>G (p.Cys438Trp) c.1611C>G (p.Cys537Trp) c.1593C>G (p.Cys531Trp) c.1302C>G (p.Cys434Trp) c.1230C>G (p.Cys410Trp) n.2096C>G n.2035C>G n.1989C>G | gnomAD v4 |
2 | g.25244248G= | CA1239262872 | DNMT3A | c.77C= c.904C= (n.904C=) c.1089C= (p.Cys363=) c.1758C= (p.Cys586=) c.1191C= (p.Cys397=) n.77C= c.1314C= (p.Cys438=) c.1611C= (p.Cys537=) c.1593C= (p.Cys531=) c.1302C= (p.Cys434=) c.1230C= (p.Cys410=) n.2096C= n.2035C= n.1989C= | |
2 | g.25244248G>T | CA346071841 | DNMT3A | c.77C>A c.904C>A (n.904C>A) c.1089C>A (p.Cys363Ter) c.1758C>A (p.Cys586Ter) c.1191C>A (p.Cys397Ter) n.77C>A c.1314C>A (p.Cys438Ter) c.1611C>A (p.Cys537Ter) c.1593C>A (p.Cys531Ter) c.1302C>A (p.Cys434Ter) c.1230C>A (p.Cys410Ter) n.2096C>A n.2035C>A n.1989C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244249C>A | CA346071842 | DNMT3A | c.76G>T c.903G>T (n.903G>T) c.1088G>T (p.Cys363Phe) c.1757G>T (p.Cys586Phe) c.1190G>T (p.Cys397Phe) n.76G>T c.1313G>T (p.Cys438Phe) c.1610G>T (p.Cys537Phe) c.1592G>T (p.Cys531Phe) c.1301G>T (p.Cys434Phe) c.1229G>T (p.Cys410Phe) n.2095G>T n.2034G>T n.1988G>T | ClinVar dbSNP |
2 | g.25244249C= | CA1239262875 | DNMT3A | c.76G= c.903G= (n.903G=) c.1088G= (p.Cys363=) c.1757G= (p.Cys586=) c.1190G= (p.Cys397=) n.76G= c.1313G= (p.Cys438=) c.1610G= (p.Cys537=) c.1592G= (p.Cys531=) c.1301G= (p.Cys434=) c.1229G= (p.Cys410=) n.2095G= n.2034G= n.1988G= | |
2 | g.25244249C>G | CA346071843 | DNMT3A | c.76G>C c.903G>C (n.903G>C) c.1088G>C (p.Cys363Ser) c.1757G>C (p.Cys586Ser) c.1190G>C (p.Cys397Ser) n.76G>C c.1313G>C (p.Cys438Ser) c.1610G>C (p.Cys537Ser) c.1592G>C (p.Cys531Ser) c.1301G>C (p.Cys434Ser) c.1229G>C (p.Cys410Ser) n.2095G>C n.2034G>C n.1988G>C | |
2 | g.25244249C>T | CA1555881 | DNMT3A | c.76G>A c.903G>A (n.903G>A) c.1088G>A (p.Cys363Tyr) c.1757G>A (p.Cys586Tyr) c.1190G>A (p.Cys397Tyr) n.76G>A c.1313G>A (p.Cys438Tyr) c.1610G>A (p.Cys537Tyr) c.1592G>A (p.Cys531Tyr) c.1301G>A (p.Cys434Tyr) c.1229G>A (p.Cys410Tyr) n.2095G>A n.2034G>A n.1988G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25244251_25244252dup | CA2576694308 | DNMT3A | c.75_76dup c.902_903dup (n.902_903dup) c.1087_1088dup (p.Gly364AlafsTer?) c.1756_1757dup (p.Gly587AlafsTer?) c.1189_1190dup (p.Gly398AlafsTer?) n.75_76dup c.1312_1313dup (p.Gly439AlafsTer?) c.1609_1610dup (p.Gly538AlafsTer?) c.1591_1592dup (p.Gly532AlafsTer?) c.1300_1301dup (p.Gly435AlafsTer?) c.1228_1229dup (p.Gly411AlafsTer?) n.2094_2095dup n.2033_2034dup n.1987_1988dup | |
2 | g.25244251_25244252del | CA2658168624 | DNMT3A | c.75_76del c.902_903del (n.902_903del) c.1087_1088del (p.Cys363ArgfsTer25) c.1756_1757del (p.Cys586ArgfsTer25) c.1189_1190del (p.Cys397ArgfsTer25) n.75_76del c.1312_1313del (p.Cys438ArgfsTer25) c.1609_1610del (p.Cys537ArgfsTer25) c.1591_1592del (p.Cys531ArgfsTer25) c.1300_1301del (p.Cys434ArgfsTer25) c.1228_1229del (p.Cys410ArgfsTer25) n.2094_2095del n.2033_2034del n.1987_1988del | gnomAD v4 |
2 | g.25244249_25244260delinsCACATGTAGCAG | CA1239262878 | DNMT3A | c.65_76delinsCTGCTACATGTG c.892_903delinsCTGCTACATGTG (n.892_903delinsCTGCTACATGTG) c.1077_1088delinsCTGCTACATGTG (p.Asn359=) c.1746_1757delinsCTGCTACATGTG (p.Asn582=) c.1179_1190delinsCTGCTACATGTG (p.Asn393=) n.65_76delinsCTGCTACATGTG c.1302_1313delinsCTGCTACATGTG (p.Asn434=) c.1599_1610delinsCTGCTACATGTG (p.Asn533=) c.1581_1592delinsCTGCTACATGTG (p.Asn527=) c.1290_1301delinsCTGCTACATGTG (p.Asn430=) c.1218_1229delinsCTGCTACATGTG (p.Asn406=) n.2084_2095delinsCTGCTACATGTG n.2023_2034delinsCTGCTACATGTG n.1977_1988delinsCTGCTACATGTG | |
2 | g.25244250A= | CA1239262882 | DNMT3A | c.75T= c.902T= (n.902T=) c.1087T= (p.Cys363=) c.1756T= (p.Cys586=) c.1189T= (p.Cys397=) n.75T= c.1312T= (p.Cys438=) c.1609T= (p.Cys537=) c.1591T= (p.Cys531=) c.1300T= (p.Cys434=) c.1228T= (p.Cys410=) n.2094T= n.2033T= n.1987T= | |
2 | g.25244250A>C | CA346071844 | DNMT3A | c.75T>G c.902T>G (n.902T>G) c.1087T>G (p.Cys363Gly) c.1756T>G (p.Cys586Gly) c.1189T>G (p.Cys397Gly) n.75T>G c.1312T>G (p.Cys438Gly) c.1609T>G (p.Cys537Gly) c.1591T>G (p.Cys531Gly) c.1300T>G (p.Cys434Gly) c.1228T>G (p.Cys410Gly) n.2094T>G n.2033T>G n.1987T>G | |
2 | g.25244250A>G | CA346071845 | DNMT3A | c.75T>C c.902T>C (n.902T>C) c.1087T>C (p.Cys363Arg) c.1756T>C (p.Cys586Arg) c.1189T>C (p.Cys397Arg) n.75T>C c.1312T>C (p.Cys438Arg) c.1609T>C (p.Cys537Arg) c.1591T>C (p.Cys531Arg) c.1300T>C (p.Cys434Arg) c.1228T>C (p.Cys410Arg) n.2094T>C n.2033T>C n.1987T>C | |
2 | g.25244250A>T | CA346071846 | DNMT3A | c.75T>A c.902T>A (n.902T>A) c.1087T>A (p.Cys363Ser) c.1756T>A (p.Cys586Ser) c.1189T>A (p.Cys397Ser) n.75T>A c.1312T>A (p.Cys438Ser) c.1609T>A (p.Cys537Ser) c.1591T>A (p.Cys531Ser) c.1300T>A (p.Cys434Ser) c.1228T>A (p.Cys410Ser) n.2094T>A n.2033T>A n.1987T>A | |
2 | g.25244250dup | CA1239262884 | DNMT3A | c.75dup c.902dup (n.902dup) c.1087dup (p.Cys363LeufsTer26) c.1756dup (p.Cys586LeufsTer26) c.1189dup (p.Cys397LeufsTer26) n.75dup c.1312dup (p.Cys438LeufsTer26) c.1609dup (p.Cys537LeufsTer26) c.1591dup (p.Cys531LeufsTer26) c.1300dup (p.Cys434LeufsTer26) c.1228dup (p.Cys410LeufsTer26) n.2094dup n.2033dup n.1987dup | dbSNP |
2 | g.25244250_25244251delinsAC | CA1239262880 | DNMT3A | c.74_75delinsGT c.901_902delinsGT (n.901_902delinsGT) c.1086_1087delinsGT (p.Met362=) c.1755_1756delinsGT (p.Met585=) c.1188_1189delinsGT (p.Met396=) n.74_75delinsGT c.1311_1312delinsGT (p.Met437=) c.1608_1609delinsGT (p.Met536=) c.1590_1591delinsGT (p.Met530=) c.1299_1300delinsGT (p.Met433=) c.1227_1228delinsGT (p.Met409=) n.2093_2094delinsGT n.2032_2033delinsGT n.1986_1987delinsGT | |
2 | g.25244250_25244260del | CA1028509745 | DNMT3A | c.65_75del c.892_902del (n.892_902del) c.1077_1087del (p.Asn359LysfsTer26) c.1746_1756del (p.Asn582LysfsTer26) c.1179_1189del (p.Asn393LysfsTer26) n.65_75del c.1302_1312del (p.Asn434LysfsTer26) c.1599_1609del (p.Asn533LysfsTer26) c.1581_1591del (p.Asn527LysfsTer26) c.1290_1300del (p.Asn430LysfsTer26) c.1218_1228del (p.Asn406LysfsTer26) n.2084_2094del n.2023_2033del n.1977_1987del | dbSNP gnomAD v3 gnomAD v4 |